Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Critical and exhaustive investigation or experimentation, having for its aim the discovery of new facts and their correct interpretation, the revision of accepted conclusions, theories, or laws in the light of newly discovered facts, or the practical application of such new or revised conclusions, theories, or laws. (Webster, 3d ed)
Financial support of research activities.
A plan for collecting and utilizing data so that desired information can be obtained with sufficient precision or so that an hypothesis can be tested properly.
The moral obligations governing the conduct of research. Used for discussions of research ethics as a general topic.
Those individuals engaged in research.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.
Research carried out by nurses, generally in clinical settings, in the areas of clinical practice, evaluation, nursing education, nursing administration, and methodology.
The attempt to improve the PHENOTYPES of future generations of the human population by fostering the reproduction of those with favorable phenotypes and GENOTYPES and hampering or preventing BREEDING by those with "undesirable" phenotypes and genotypes. The concept is largely discredited. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
Genetic diseases that are linked to mutant ALLELES on the Y CHROMOSOME in humans (Y CHROMOSOME, HUMAN) or the Y chromosome in other species. Included here are animal models of human Y-linked diseases.
The integration of epidemiologic, sociological, economic, and other analytic sciences in the study of health services. Health services research is usually concerned with relationships between need, demand, supply, use, and outcome of health services. The aim of the research is evaluation, particularly in terms of structure, process, output, and outcome. (From Last, Dictionary of Epidemiology, 2d ed)
The application of discoveries generated by laboratory research and preclinical studies to the development of clinical trials and studies in humans. A second area of translational research concerns enhancing the adoption of best practices.
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
Research into the cause, transmission, amelioration, elimination, or enhancement of inherited disorders and traits.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8)
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.
The religion of the Jews characterized by belief in one God and in the mission of the Jews to teach the Fatherhood of God as revealed in the Hebrew Scriptures. (Webster, 3d ed)
Research carried out by nurses in the clinical setting and designed to provide information that will help improve patient care. Other professional staff may also participate in the research.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
The study of laws, theories, and hypotheses through a systematic examination of pertinent facts and their interpretation in the field of dentistry. (From Jablonski, Illustrated Dictionary of Dentistry, 1982, p674)
An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Any method used for determining the location of and relative distances between genes on a chromosome.
A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Collaborative process of research involving researchers and community representatives.
A coordinated effort of researchers to map (CHROMOSOME MAPPING) and sequence (SEQUENCE ANALYSIS, DNA) the human GENOME.
Research that involves the application of the behavioral and social sciences to the study of the actions or reactions of persons or animals in response to external or internal stimuli. (from American Heritage Dictionary, 4th ed)
Any type of research that employs nonnumeric information to explore individual or group characteristics, producing findings not arrived at by statistical procedures or other quantitative means. (Qualitative Inquiry: A Dictionary of Terms Thousand Oaks, CA: Sage Publications, 1997)
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
The branch of mathematics dealing with the purely logical properties of probability. Its theorems underlie most statistical methods. (Last, A Dictionary of Epidemiology, 2d ed)
Genes that influence the PHENOTYPE only in the homozygous state.
An mRNA metabolic process that distinguishes a normal STOP CODON from a premature stop codon (NONSENSE CODON) and facilitates rapid degradation of aberrant mRNAs containing premature stop codons.
The use of humans as investigational subjects.
A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
A technique which uses synthetic oligonucleotides to direct the cell's inherent DNA repair system to correct a mutation at a specific site in an episome or chromosome.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Biochemical identification of mutational changes in a nucleotide sequence.
DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.
Databases devoted to knowledge about specific genes and gene products.
The systematic study of the complete DNA sequences (GENOME) of organisms.
The introduction of functional (usually cloned) GENES into cells. A variety of techniques and naturally occurring processes are used for the gene transfer such as cell hybridization, LIPOSOMES or microcell-mediated gene transfer, ELECTROPORATION, chromosome-mediated gene transfer, TRANSFECTION, and GENETIC TRANSDUCTION. Gene transfer may result in genetically transformed cells and individual organisms.
Sequential operating programs and data which instruct the functioning of a digital computer.
Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.
Determination of the nature of a pathological condition or disease in the OVUM; ZYGOTE; or BLASTOCYST prior to implantation. CYTOGENETIC ANALYSIS is performed to determine the presence or absence of genetic disease.
Genotypic differences observed among individuals in a population.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Identification of genetic carriers for a given trait.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
Organizations representing specialized fields which are accepted as authoritative; may be non-governmental, university or an independent research organization, e.g., National Academy of Sciences, Brookings Institution, etc.
Voluntary authorization, by a patient or research subject, with full comprehension of the risks involved, for diagnostic or investigative procedures, and for medical and surgical treatment.
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
The principles of professional conduct concerning the rights and duties of the physician, relations with patients and fellow practitioners, as well as actions of the physician in patient care and interpersonal relations with patient families.
Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.
An individual having different alleles at one or more loci regarding a specific character.
The study, based on direct observation, use of statistical records, interviews, or experimental methods, of actual practices or the actual impact of practices or policies.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Pathological conditions resulting from abnormal anabolism or catabolism of lipids in the body.
Storage-stable blood coagulation factor acting in the intrinsic pathway. Its activated form, IXa, forms a complex with factor VIII and calcium on platelet factor 3 to activate factor X to Xa. Deficiency of factor IX results in HEMOPHILIA B (Christmas Disease).
Experimentation on, or using the organs or tissues from, a human or other mammalian conceptus during the prenatal stage of development that is characterized by rapid morphological changes and the differentiation of basic structures. In humans, this includes the period from the time of fertilization to the end of the eighth week after fertilization.
That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.
A characteristic symptom complex.
An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)
An operating division of the US Department of Health and Human Services. It is concerned with the overall planning, promoting, and administering of programs pertaining to health and medical research. Until 1995, it was an agency of the United States PUBLIC HEALTH SERVICE.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.
Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
Extensive collections, reputedly complete, of facts and data garnered from material of a specialized subject area and made available for analysis and application. The collection can be automated by various contemporary methods for retrieval. The concept should be differentiated from DATABASES, BIBLIOGRAPHIC which is restricted to collections of bibliographic references.
A genus of the family PARVOVIRIDAE, subfamily PARVOVIRINAE, which are dependent on a coinfection with helper adenoviruses or herpesviruses for their efficient replication. The type species is Adeno-associated virus 2.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008)
The interaction of two or more persons or organizations directed toward a common goal which is mutually beneficial. An act or instance of working or acting together for a common purpose or benefit, i.e., joint action. (From Random House Dictionary Unabridged, 2d ed)
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
Established cell cultures that have the potential to propagate indefinitely.
Detailed account or statement or formal record of data resulting from empirical inquiry.
The integration of exogenous DNA into the genome of an organism at sites where its expression can be suitably controlled. This integration occurs as a result of homologous recombination.
A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.
Time period from 1901 through 2000 of the common era.
Experimentation on STEM CELLS and on the use of stem cells.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
Works about pre-planned studies of the safety, efficacy, or optimum dosage schedule (if appropriate) of one or more diagnostic, therapeutic, or prophylactic drugs, devices, or techniques selected according to predetermined criteria of eligibility and observed for predefined evidence of favorable and unfavorable effects. This concept includes clinical trials conducted both in the U.S. and in other countries.
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
An infant during the first month after birth.
Organized activities related to the storage, location, search, and retrieval of information.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.
A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.
Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
Malformations of organs or body parts during development in utero.
An adrenal microsomal cytochrome P450 enzyme that catalyzes the 21-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP21 gene, converts progesterones to precursors of adrenal steroid hormones (CORTICOSTERONE; HYDROCORTISONE). Defects in CYP21 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).
The Alu sequence family (named for the restriction endonuclease cleavage enzyme Alu I) is the most highly repeated interspersed repeat element in humans (over a million copies). It is derived from the 7SL RNA component of the SIGNAL RECOGNITION PARTICLE and contains an RNA polymerase III promoter. Transposition of this element into coding and regulatory regions of genes is responsible for many heritable diseases.
Elements of limited time intervals, contributing to particular results or situations.
A group of techniques developed to apply scientific methods and tools to solve the problems of DECISION MAKING in complex organizations and systems. Operations research searches for optimal solutions in situations of conflicting GOALS and makes use of mathematical models from which solutions for actual problems may be derived. (From Psychiatric Dictionary, 6th ed)
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
"The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
The portion of an interactive computer program that issues messages to and receives commands from a user.
Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.
An individual in which both alleles at a given locus are identical.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc.
Systematic gathering of data for a particular purpose from various sources, including questionnaires, interviews, observation, existing records, and electronic devices. The process is usually preliminary to statistical analysis of the data.
Databases containing information about NUCLEIC ACIDS such as BASE SEQUENCE; SNPS; NUCLEIC ACID CONFORMATION; and other properties. Information about the DNA fragments kept in a GENE LIBRARY or GENOMIC LIBRARY is often maintained in DNA databases.
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.
An agency of the PUBLIC HEALTH SERVICE established in 1990 to "provide indexing, abstracting, translating, publishing, and other services leading to a more effective and timely dissemination of information on research, demonstration projects, and evaluations with respect to health care to public and private entities and individuals engaged in the improvement of health care delivery..." It supersedes the National Center for Health Services Research. The United States Agency for Health Care Policy and Research was renamed Agency for Healthcare Research and Quality (AHRQ) under the Healthcare Research and Quality Act of 1999.
The circulation or wide dispersal of information.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
Interaction between research personnel and research subjects.
The magnitude of INBREEDING in humans.
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
A strain of mice widely studied as a model for cystic fibrosis. These mice are generated from embryonic stem cells in which the CFTR (cystic fibrosis transmembrane conductance regulator) gene is inactivated by gene targeting. As a result, all mice have one copy of this altered gene in all their tissues. Mice homozygous for the disrupted gene exhibit many features common to young cystic fibrosis patients, including failure to thrive, meconium ileus, and alteration of mucous and serous glands.
Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.
The use of statistical methods in the analysis of a body of literature to reveal the historical development of subject fields and patterns of authorship, publication, and use. Formerly called statistical bibliography. (from The ALA Glossary of Library and Information Science, 1983)
The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
Any codon that signals the termination of genetic translation (TRANSLATION, GENETIC). PEPTIDE TERMINATION FACTORS bind to the stop codon and trigger the hydrolysis of the aminoacyl bond connecting the completed polypeptide to the tRNA. Terminator codons do not specify amino acids.
A publication issued at stated, more or less regular, intervals.
A social group consisting of parents or parent substitutes and children.
A subgroup of TRP cation channels that are widely expressed in various cell types. Defects are associated with POLYCYSTIC KIDNEY DISEASES.
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.
Facilities that collect, store, and distribute tissues, e.g., cell lines, microorganisms, blood, sperm, milk, breast tissue, for use by others. Other uses may include transplantation and comparison of diseased tissues in the identification of cancer.
An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
The use of animals as investigational subjects.
A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)
A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.
A nitrosourea compound with alkylating, carcinogenic, and mutagenic properties.
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
A multifunctional pyridoxal phosphate enzyme. In the second stage of cysteine biosynthesis it catalyzes the reaction of homocysteine with serine to form cystathionine with the elimination of water. Deficiency of this enzyme leads to HYPERHOMOCYSTEINEMIA and HOMOCYSTINURIA. EC 4.2.1.22.
Copies of a work or document distributed to the public by sale, rental, lease, or lending. (From ALA Glossary of Library and Information Science, 1983, p181)
Non-human animals, selected because of specific characteristics, for use in experimental research, teaching, or testing.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Educational institutions providing facilities for teaching and research and authorized to grant academic degrees.
A protein found most abundantly in the nervous system. Defects or deficiencies in this protein are associated with NEUROFIBROMATOSIS 1, Watson syndrome, and LEOPARD syndrome. Mutations in the gene (GENE, NEUROFIBROMATOSIS 1) affect two known functions: regulation of ras-GTPase and tumor suppression.
The interaction of persons or groups of persons representing various nations in the pursuit of a common goal or interest.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
A diverse group of proteins whose genetic MUTATIONS have been associated with the chromosomal instability syndrome FANCONI ANEMIA. Many of these proteins play important roles in protecting CELLS against OXIDATIVE STRESS.
Time period from 2001 through 2100 of the common era.
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
Human experimentation that is not intended to benefit the subjects on whom it is performed. Phase I drug studies (CLINICAL TRIALS, PHASE I AS TOPIC) and research involving healthy volunteers are examples of nontherapeutic human experimentation.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
A systematic statement of policy rules or principles. Guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by convening expert panels. The text may be cursive or in outline form but is generally a comprehensive guide to problems and approaches in any field of activity. For guidelines in the field of health care and clinical medicine, PRACTICE GUIDELINES AS TOPIC is available.
Nucleotide sequences located at the ends of EXONS and recognized in pre-messenger RNA by SPLICEOSOMES. They are joined during the RNA SPLICING reaction, forming the junctions between exons.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
The study of natural phenomena by observation, measurement, and experimentation.
The number of mutations that occur in a specific sequence, GENE, or GENOME over a specified period of time such as years, CELL DIVISIONS, or generations.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
Branch of medicine concerned with the prevention and control of disease and disability, and the promotion of physical and mental health of the population on the international, national, state, or municipal level.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Criteria and standards used for the determination of the appropriateness of the inclusion of patients with specific conditions in proposed treatment plans and the criteria used for the inclusion of subjects in various clinical trials and other research protocols.
The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
demonstrated mutations in cultured somatic cells; he has also conducted much research on inborn errors of metabolism, ... "Uniparental disomy as a mechanism for human genetic disease". American Journal of Human Genetics. 42 (2): 217-226. PMC 1715272 ... Beaudet began his research in the 1960s with studies on protein synthesis. In the 1970s, Beaudet et al. ... published a paper regarding the mechanism by which uniparental disomy might cause certain types of human genetic disease. This ...
2004 Inborn Genetic Diseases: Advances in Research and Treatment: 2011 Edition. ScholarlyEditions. 9 January 2012. pp. 1-. ISBN ... to further determine whether the genetic variant is the true cause of the disease. Stem Cell Research - This program is focused ... Masonic Medical Research Institute is a research organization founded by the Grand Lodge of New York. The institute studies ... and to develop treatments for heart disease. Molecular Genetics - Using genetic sequencing techniques, scientists at the MMRI ...
2013 Genetic Disease Foundation Scientific Honoree for Contributions to Genetic Research and Genetic Medicine 2013 Inventor of ... ISBN 978-3-8055-3573-1 Tada, K., Colombo, J. P. and Desnick, R. J., eds.: Recent Advances in Inborn Errors of Metabolism. ... His translational research has led to the development of enzyme replacement therapy for Fabry disease, Niemann-Pick disease ... His research awards include the E. H. Ahrens, Jr. Award for Research from the Association for Patient-Oriented Research and the ...
Chung's work researching cardiomyopathies describes metabolic causes, identify genetic modifiers of disease progression in ... congenital heart disease, diabetes, genetic counseling, inborn metabolism disorder, inherited arrhythmias, neurogenetics, ... Throughout her career, Chung's research largely to the genetic basis of human diseases, specifically learning the discovery of ... using rodent genetic models as a foundation from which to expand research to humans. In this research, Chung was able to clone ...
... genetic, immunological, and clinical features of inborn errors of IFN-γ immunity". Seminars in Immunology. 26 (6): 454-70. doi: ... Cytokine Research. 34 (5): 307-17. doi:10.1089/jir.2013.0050. PMC 4015507. PMID 24359575. Rosenzweig, Sergio D.; Holland, ... Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disease. It is a primary immunodeficiency featured ... parenchymal lung diseases caused by mycobacterial infections, hylar lymphadenopathy, or endobronchial disease. If these ...
... the Adult Polyglucosan Body Disease Research Foundation, to fund research into the disease and its management. In 2015 the ... Adult polyglucosan body disease (APBD) is an orphan disease and a glycogen storage disorder that is caused by an inborn error ... APBD can only be prevented if parents undergo genetic screening to understand their risk of producing a child with the ... Adult polyglucosan body disease is an orphan disease and a glycogen storage disorder that is caused by an inborn error of ...
His current research is focused on the interactions between the environment and common genetic variations and involves research ... He is best known for his work in caring for children with rare genetic diseases. Summar is currently the director of the Rare ... Summar, M.L.; Mew, N. A. (2018). "Inborn Errors of Metabolism with Hyperammonemia. Urea Cycle Defects and Related Disorders". ... Summar also specializes in the development of devices and therapies for patients with rare genetic and biochemical diseases, as ...
... screening for metabolic diseases as well as having established much of current understanding of major biochemical genetic ... treatment and research of the disorders identified by screening. Continuing his research at the Massachusetts general Hospital ... He developed the basis for biochemical and clinical investigation of the inborn errors of metabolism identified by newborn ... ACMG Foundation for Genetic and Genomic Medicine Levy HL. Genetic Screening. In: Harris H, Hirschhorn K, eds. Advances in Human ...
Pathogenicity associated with inborn genetic diseases. (MTRR):c.1573C>T - Arginine substitution with a premature termination ... International Journal of Environmental Research and Public Health. 13 (12): 1243. doi:10.3390/ijerph13121243. PMC 5201384. PMID ... AND Inborn genetic diseases - ClinVar - NCBI". Retrieved 2017-09-16. T">"NM_002454.2(MTRR):c.1573C>T (p.Arg525Ter) AND not ... Zhang T, Lou J, Zhong R, Wu J, Zou L, Sun Y, Lu X, Liu L, Miao X, Xiong G (2013). "Genetic variants in the folate pathway and ...
... a genetic diagnostic and research company. In 2014, Navigene was embroiled in a controversy where its founders were accused of ... Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography- ... In fact, urinary metabolites have been used to characterize nearly 220 diseases. Cordlife announced in October 2013 that ... It can detect as many as 110 inborn errors of metabolism ("IEMs", or metabolic disorders) from a urine specimen. Cordlife owns ...
Discovery genomics is the major thrust of her research and ongoing projects include genetic analysis of complex traits ... for X-linked mental retardation and Parkinson's disease Unraveling genome signatures with implication for diseases Functional ... She is also the Co-ordinator of a major project on newborn screening for inborn errors of metabolism in Delhi state which aims ... "Research Gate Profile". "INSA Profile - BK Thelma". Archived from the original on 21 March 2014. Retrieved 21 March 2014. ...
... is a French-American geneticist whose research has focused on the genetic basis of metabolic disease in humans. Neufeld and her ... Inborn error of metabolism Terrie M. Rooney, ed. (1998). Contemporary Authors. 161. Gale / Cengage Learning. ISBN 9780787619947 ... She went on to work as a research assistant at the Jackson Laboratory in Bar Harbor, Maine looking at blood disorders in mice. ... Neufeld has been awarded the Wolf Prize, the Albert Lasker Award for Clinical Medical Research, and was awarded the National ...
... genetic, and environmental sources of origin.[67] This model has been challenged by research showing that Native American ... American Indians have an inborn, insatiable appetite for alcohol.[68]. *American Indians are hypersensitive to alcohol (cannot ... Disease evolution and host-pathogen interactions may have influenced Native American disease history. Disease evolution is the ... liver disease, and hepatitis." The leading causes of death for Native Americans include the following diseases: heart disease, ...
... genetic causes include polycystic kidney disease, and a number of inborn errors of metabolism. The commonest 'cause' is ... However, some research seem to suggest that immunosuppressive drugs and antiretrovirals may work synergistically to help both ... aside from the kidney disease). Significant cardiovascular disease, incurable terminal infectious diseases and cancer are often ... Common diseases leading to ESRD include renovascular disease, infection, diabetes mellitus, and autoimmune conditions such as ...
Symptoms of OS include: Genetic defects Mitochondrial disease Mitochondrial respiratory chain defects Inborn errors of ... Research on ELP4 has been linked the gene to a centrotemporal sharp spike phenotype. Hypotheses have been made that a mutation ... The Genetic Absence Epilepsy Rats from Strasbourg (GAERS) and the inbred Wistar Albino Glaxo rats from Rijswijk (WAG/Rij) are ... Rat genetic models have given data showing that the expression of absence seizures involves both the thalamic and cortical ...
Deficiency in ETF dehydrogenase causes the human genetic disease multiple acyl-CoA dehydrogenase deficiency. ETQ-QO links the ... Vianey-Liaud C, Divry P, Gregersen N, Mathieu M (1987). "The inborn errors of mitochondrial fatty acid oxidation". Journal of ... Journal of Lipid Research. 28 (3): 279-84. PMID 3572253. Singla M, Guzman G, Griffin AJ, Bharati S (Mar 2008). "Cardiomyopathy ... "A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency". American Journal of Human Genetics. 81 (1 ...
Inborn Metabolic Diseases Diagnosis and Treatment (2012) Al-Odaib AN, Abu-Amaro KK, Ozand PT, Al-Hellani AM (2003). "A new era ... mayoresearch.mayo.edu/mayo/research/barry_lab/ropionic-Aciademia.cfm Archived 2008-08-29 at the Wayback Machine Barry Lab - ... for preventive genetic programs in the Arabian Peninsula". Saudi Medical Journal. 24 (11): 1168-1175. PMID 14647548. Kidd JR, ... Propionic acidemia at NLM Genetics Home Reference Propionic acidemia at NIH's Office of Rare Diseases "Propionic acidemia". ...
... research in medical genetics and cancer genetics Giorgio Filippi (1935-1996), Italian medical geneticist, researched diseases ... genetic basis of trinucleotide repeat diseases and cancer Martha M. Howe, US phage geneticist, notable contributions to the ... pioneered inborn errors, founded biochemical genetics Stan Gartler (born 1923), US human geneticist, G6PD as X-linked marker, ... described genetic disease: Alström syndrome Sidney Altman (born 1939), Canadian-US biophysicist who won Nobel Prize for ...
About 250 heritable genetic disorders have been identified in cats, many similar to human inborn errors. The high level of ... The gene responsible for this defect is the KIT gene and the disease is studied in the hope that it may shed light on the ... National Cancer Institute Frederick Cancer Research and Development Center in Frederick, Maryland, aims to help the development ... The existence of a draft genome has led to the discovery of several cat disease genes, and even allowed the development of cat ...
"Cleidocranial dysplasia". Genetic and Rare Diseases Information Center (GARD) - an NCATS Program. 2016. Archived from the ... Epstein, Charles J.; Erickson, Robert P.; Wynshaw-Boris, Anthony Joseph (2004). Inborn Errors of Development: The Molecular ... Related Research. January 1987 (214): 229-34. PMID 3791747. Archived from the original on 2016-11-03. Nebgen, Denise; Wood, ... Rare Genetic Disorders That Affect the Skeleton. AuthorHouse. 2013. p. 43. ISBN 9781491815045. Archived from the original on ...
The genetic architecture of common diseases is an important factor in determining the extent to which patterns of genetic ... The broad range of research in medical genetics reflects the overall scope of this field, including basic research on genetic ... However, for many genetic syndromes there is treatment available to manage the symptoms. In some cases, particularly inborn ... Genetic variants associated with Alzheimer disease, deep venous thrombosis, Crohn disease, and type 2 diabetes appear to adhere ...
Main article: Inborn error of metabolism. A congenital metabolic disease is also referred to as an inborn error of metabolism. ... "Mutation Research/Genetic Toxicology and Environmental Mutagenesis. 581 (1-2): 69-82. doi:10.1016/j.mrgentox.2004.11.002. PMID ... Birth Defects Research. Centers for Disease Control and Prevention. *^ a b "Facts about Cleft Lip and Cleft Palate , Birth ... This oxidative damage may result in epigenetic or genetic modifications of the father's germline. Research has shown that fetal ...
Main article: Inborn error of metabolism. A congenital metabolic disease is also referred to as an inborn error of metabolism. ... Mutation Research/Genetic Toxicology and Environmental Mutagenesis. 581 (1-2): 69-82. doi:10.1016/j.mrgentox.2004.11.002. PMID ... Birth Defects Research Archived 2015-09-24 at the Wayback Machine. Centers for Disease Control and Prevention. ... Alliance, Genetic; Health, District of Columbia Department of (2010-02-17). Teratogens/Prenatal Substance Abuse. Genetic ...
Reduced penetrance is a phenomenon where a fully inherited genetic trait, such as a disease or disorder, fails to exhibit the ... An inborn error of renal tubular transport". The New England Journal of Medicine. 278 (26): 1407-1413. doi:10.1056/ ... Pediatric Research. 13 (1): 65-70. doi:10.1203/00006450-197901000-00014. ISSN 0031-3998. PMID 432003. Weinberger B, Hanna N, ... While no single genetic mutation has been established as the cause of iminoglycinuria; several mutations, affecting transport ...
Genetic defects that affect the MTHFR, MTR, and MTRR/MS enzyme pathways can also contribute to high homocysteine levels. Inborn ... However, little is known about the regional and cellular expression patterns of CBS in the ovary and research is now focused on ... Mutations in this domain are correlated with hereditary diseases. The heme domain contains an N-terminal loop that binds heme ... It has been speculated that cystathionine beta synthase overexpression could be the major culprit in this disease (along with ...
... and research is ongoing as to whether it can improve symptoms. Alkaptonuria is a rare disease; it occurs in one in 250,000 ... The genetic basis was elucidated in 1996, when HGD mutations were demonstrated. A 1977 study showed that an ochronotic Egyptian ... doi:10.1016/s0140-6736(01)78041-5. Garrod AE (1909). "Inborn errors of metabolism". Oxford University Press. OL 7116744M. La Du ... Very occasionally the disease appears to be transmitted in an autosomal dominant fashion, where a single abnormal copy of HGD ...
A congenital metabolic disease is also referred to as an inborn error of metabolism. Most of these are single-gene defects, ... Mutation Research/Genetic Toxicology and Environmental Mutagenesis. 581 (1-2): 69-82. doi:10.1016/j.mrgentox.2004.11.002. PMID ... Birth Defects Research Archived 2015-09-24 at the Wayback Machine. Centers for Disease Control and Prevention. "Facts about ... Different countries support the screening for a number of metabolic disorders (inborn errors of metabolism (IEM)), and genetic ...
... genetic causes include polycystic kidney disease, a number of inborn errors of metabolism, and autoimmune conditions such as ... However, some research seem to suggest that immunosuppressive drugs and antiretrovirals may work synergistically to help both ... aside from the kidney disease). Significant cardiovascular disease, incurable terminal infectious diseases and cancer are often ... Kidney transplantation or renal transplantation is the organ transplant of a kidney into a patient with end-stage renal disease ...
Graft-versus-host disease[edit]. Main article: Graft-versus-host disease. Graft-versus-host disease (GVHD) is an inflammatory ... Research[edit]. HIV[edit]. In 2007, a team of doctors in Berlin, Germany, including Gero Hütter, performed a stem cell ... Δ32 homozygous individual with two genetic copies of a rare variant of a cell surface receptor. This genetic trait confers ... Candidates for HSCTs include pediatric cases where the patient has an inborn defect such as severe combined immunodeficiency or ...
脂質遺傳性(英语:Inborn error of lipid metabolism)代謝缺陷 : 血脂異常(英语:dyslipidemia) (E78、272.0-272.6(英语:List of ICD-9 codes 240-279: ... BMJ (Clinical research ed.) (Meta-analysis). 2012-05-16, 344: e2088. PMC 3355191. PMID 22596383. doi:10.1136/bmj.e2088.. ... The genetic contribution to non-syndromic human obesity.. Nat Rev Genet. (Review). 2009-07, 10 (7): 431-42 [2016-01-11]. PMID ... A.M.A. Recognizes Obesity as a Disease. New York Times. 2013-06-18 [2015-11-19]. (原始内容存档于2013-06-23
Saronwala, A.; Tournay, A.; Gargus, J. J. "Genetic inborn error of metabolism provides a unique window into molecular ... Such diseases are caused by an error in a single DNA gene. Because the disease is autosomal, the defective gene is found on an ... Research[edit]. While SSADH deficiency has been studied for nearly 30 years, knowledge of the disorder and its pathophysiology ... Inborn errors of metabolism. References[edit]. *^ Chambliss, K. L.; Hinson, D. D.; Trettel, F.; Malaspina, P.; Novelletto, A.; ...
Cardiovascular disease[edit]. Evidence suggests that dietary vitamin D may be carried by lipoprotein particles into cells of ... Cosman F, Nieves J, Dempster D, Lindsay R (December 2007). "Vitamin D economy in blacks". Journal of Bone and Mineral Research ... and Blood Institute Family Heart Study and Hypertension Genetic Epidemiology Network". The American Journal of Cardiology. 97 ( ... Vieth R (December 2007). "Vitamin D toxicity, policy, and science". Journal of Bone and Mineral Research. 22 Suppl 2: V64-8. ...
Equine Research (2005). Horseman's Veterinary Encyclopedia, Revised and Updated. Lyons Press. ISBN 978-0-7627-9451-5.. ... Wortley Axe, J (2008), The Horse - Its Treatment in Health And Disease, Hewlett Press, pp. 541-542, ISBN 1-4437-7540-1. ... In all cases, however, stallions have an inborn tendency to attempt to dominate both other horses and human handlers, and will ... as the condition is at least partially genetic and some handlers claim that cryptorchids tend to have greater levels of ...
Interrelations between Essential Metal Ions and Human Diseases. Metal Ions in Life Sciences. 13. Springer. pp. 81-137. doi: ... Jelkmann W (2007). "Erythropoietin after a century of research: younger than ever". European Journal of Haematology. 78 (3): ... Almost any homeostatic component can malfunction either as a result of an inherited defect, an inborn error of metabolism, or ... Various chronic diseases are kept under control by homeostatic compensation, which masks a problem by compensating for it ( ...
"Arthritis Research & Therapy. 8 Suppl 1 (Suppl 1): S1. doi:10.1186/ar1906. PMC 3226106. PMID 16820040.. ... Hyperuricemia of this type is a common complication of solid organ transplant.[8] Apart from normal variation (with a genetic ... De Vera M, Rahman MM, Rankin J, Kopec J, Gao X, Choi H (November 2008). "Gout and the risk of Parkinson's disease: a cohort ... Inborn errors of purine-pyrimidine metabolism. Hidden categories: *CS1 Polish-language sources (pl) ...
Recent[when?] research has found that in rat models mitochondria of rats affected by the disorder grow to unusual size, dubbed ... An inborn error of metabolism leading to chronic metabolic acidosis". Arch Dis Child. 42: 492-504. doi:10.1136/adc.42.225.492. ... Though there are not distinct stages of the disease, Methylmalonic acidemia is a progressive condition; the symptoms of this ... which are determined by the specific genetic mutation causing the inherited form of the disorder. The following are the known ...
... international advocate organization for aspartylglucosaminuria Hide and Seek Foundation for lysosomal disease research ISMRD - ... Aspartylglucosaminuria is a genetic condition that is inherited from both parents. The AGU patient is born with two copies of ... Inborn error of metabolism [1] [2] [3] [4] "Archived copy". Archived from the original on 2013-04-28. Retrieved 2013-04-05. ... Even though this disease can occur in various races and ethnicities, another study backed this finding up by stating that 1 in ...
Saronwala, A.; Tournay, A.; Gargus, J. J. "Genetic inborn error of metabolism provides a unique window into molecular ... Such diseases are caused by an error in a single DNA gene. Because the disease is autosomal, the defective gene is found on an ... In addition, a lot of the research that was published in 2007 examined the pathogenesis for the disorder by examining the role ... More than 47 disease-causing mutations have been identified for the disorder, all of which lead to absence of functional ...
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (E73-E74, 271) Including glycogen storage diseases ... July 1999). "Genetic basis of transferase-deficient Galactosaemia in Ireland and the population history of the Irish Travellers ... However, research corroborates a previously overlooked theory that Duarte galactosemia may lead to language developmental ... There are diseases associated with deficiencies of each of these three enzymes: Type. Diseases Database. OMIM. Gene Locus. ...
Graft-versus-host diseaseEdit. Main article: Graft-versus-host disease. Graft-versus-host disease (GVHD) is an inflammatory ... "Cancer Research Pioneer Dies". Retrieved 6 October 2013.. *^ Bone Marrow Donors Worldwide Annual Report 2012 Archived 20 ... Δ32 homozygous individual with two genetic copies of a rare variant of a cell surface receptor. This genetic trait confers ... Candidates for HSCTs include pediatric cases where the patient has an inborn defect such as severe combined immunodeficiency or ...
The CDC's website currently says that so far vaccines have not been shown to cause mitochondrial disease but more research is ... According to German Wikipeda (with refs), Klinefelter syndrome is listed by some geneticists among the possible genetic causes ... and Immunity in Inborn Errors of Metabolism) at the U.S.' National Institutes of Health has been looking at this issue [5].. ... The research regarding an association is clear, and has been cited by the CDC [source above] as well as in this research below ...
BMI, however, does not account extremes of muscle mass, some rare genetic factors, the very young, and a few other individual ... A systematic analysis for the Global Burden of Disease Study 2013" (PDF). The Lancet. 384 (9945): 766-781. doi:10.1016/S0140- ... the Netherlands Epidemiology and Demography Compression of Morbidity Research Group. "Obesity in adulthood and its consequences ...
... including genetic or inborn hormonal factors, play a significant role in a person's sexuality (American Psychological ... Journal of Sex Research. 2006, 43 (1): 46-58. PMC 3215279. PMID 16817067. doi:10.1080/00224490609552298.. ... Homosexuality: Disease or Way of Life?. New York: Hill and Wang, Inc. 1957: 8.. ... 一些證據支持能找到預測某基因男性(genetic males)為雙性戀的生物學先兆。Money於1988年
... including genetic or inborn hormonal factors, play a significant role in a person's sexuality (American Psychological ... Research Summary 互联网档案馆的存檔,存档日期2010-07-26. from the Kinsey Institute 页面存档备份,存于互联网档案馆. ... Homosexuality: Disease or Way of Life?. New York: Hill and Wang, Inc. 1957: 8.. ... 一些證據支持能找
"47, XYY syndrome". Genetic and Rare Diseases Information Center (GARD). 2017. Retrieved 11 November 2017. "XYY Syndrome". NORD ... Brody, Jane E. (December 14, 1974). "Harvard backs genetic study; research involving young with XYY chromosome had been ... Why do men commit crimes of violence? For some, the urge to violence may be inborn-traced to something called the Y chromosome ... The genetic fable is The XYY Man by Kenneth Royce (David McKay, $4.95). It leans so lightly on the theory that an extra Y ...
... including genetic or inborn hormonal factors, play a significant role in a person's sexuality (American Psychological ... Journal of Sex Research, 32, 245-254. *↑ Bogaert, A. F. (2004). The prevalence of male homosexuality: The effect of fraternal ... Homoseksualność została umieszczona wśród zaburzeń psychicznych w The Physiognomy of Mental Diseases z roku 1833 roku autorstwa ... Brendan P.B.P. Zietsch Brendan P.B.P. i inni, Large-scale GWAS reveals insights into the genetic architecture of same-sex ...
"Alpha-lipoic acid prevents kidney stones in mouse model of rare genetic disease: Research leads to clinical trial for ... It is one of several inborn errors of metabolism included in the Garrod's tetrad. The disease is attributed to deficiency in ... Genetic analysis to determine which mutation associated with the disease may be present. Currently genotyping is not available ... Cystinuria is an autosomal recessive disease,[1] which means that the defective gene responsible for the disease is located on ...
... is a genetic disease that is autosomal recessive. It is an inborn error of metabolism that ... Research directionsEdit. Some children with LAL-D have had an experimental therapy called hematopoietic stem cell ... Lysosomal acid lipase deficiency (LAL deficiency or LAL-D), also known as Wolman disease, is an autosomal recessive inborn ... Genetic testing for family members and genetic prenatal diagnosis of pregnancies for women who are at increased risk are ...
Leathwood PD, Pollet P (1982). "Diet-induced mood changes in normal populations". Journal of Psychiatric Research. 17 (2): 147- ... m-Tyrosine and analogues (rare in nature but available synthetically) have shown application in Parkinson's disease, ... Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230.. ... Advances in genetic engineering and the advent of industrial fermentation have shifted the synthesis of L-tyrosine to the use ...
It also reports the genetic basis for the disease, consistent with the simultaneous genealogical study by James V. Neel: those ... and Pauling used it promote such research and attract funding.[3] ... to reduce the number of children born with genetic diseases.[7] Notes and references[edit]. .mw-parser-output .reflist{font- ... Wells that established sickle-cell anemia as a genetic disease in which affected individuals have a different form of the ...
"Hormone and Metabolic Research. 42 (12): 868-73. doi:10.1055/s-0030-1265145. PMC 3139422 . PMID 20842614.. ... An inborn error of renal tubular transport". The New England Journal of Medicine. 278 (26): 1407-13. doi:10.1056/ ... rare genetic disorder. Pink/yellow. Radio-opaque. Cystine, an amino acid (one of the building blocks of protein), leaks through ... National Digestive Diseases Information Clearinghouse (2006). "Crohn's Disease (NIH Publication No. 06-3410)". Digestive ...
Lysosomal Disease Network, a research consortium funded by the NIH through its NCATS/Rare Diseases Clinical Research Network ... These diseases result from an accumulation of specific substrates, due to the inability to break them down. These genetic ... inborn errors of metabolism caused by a dysfunction of one of the enzymes. The rate of incidence is estimated to be 1 in 5,000 ... The most severe and rarely found, lysosomal storage disease is inclusion cell disease.[30] ...
Genetics Home Reference related topics: Sickle cell disease Genetic and Rare Diseases Information Center resources: Sickle Cell ... Blood Sampling for Research Related to Sickle Cell Disease. The safety and scientific validity of this study is the ... Sickle cell disease is a blood disease that limits the ability of red blood cells to carry oxygen throughout the body. The ... To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For ...
Disease Attributes. Pathologic Processes. Metabolic Diseases. Skin Diseases, Genetic. Genetic Diseases, Inborn. Skin Diseases. ... MedlinePlus related topics: Porphyria Rare Diseases Genetic and Rare Diseases Information Center resources: Porphyria ... Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)). The ... 7202 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC). ...
Kidney Diseases, Cystic. Kidney Diseases. Urologic Diseases. Abnormalities, Multiple. Ciliopathies. Genetic Diseases, Inborn. ... Condition or disease Intervention/treatment Phase Polycystic Kidney, Autosomal Dominant Drug: Venglustat GZ402671 Drug: Placebo ... A Medical Research Study Designed to Determine if Venglustat Can be a Future Treatment for ADPKD Patients (STAGED-PKD). The ... Male or female adult with Autosomal Dominant Polycystic Kidney Disease (ADPKD) with age at the time the consent is signed:. * ...
David Valle is the director of the Institute of Genetic Medicine and professor of pediatrics and ophthalmology at the J... ... Research Interests: Clinical, biochemical, and molecular bases of disease; Genetic factors in neuropsychiatric disease; Inborn ... Research Summary. In the broadest sense, my research interests include understanding all aspects of the role of genetic factors ... his laboratory has discovered the genetic causation for more than 20 diseases, including those responsible for inborn errors of ...
A mutation in a persons genes can cause a medical condition called a genetic disorder. Learn about the types and how they are ... ClinicalTrials.gov: Genetic Diseases, Inborn (National Institutes of Health) * ClinicalTrials.gov: Progeria (National ... Talking Glossary of Genetic Terms (National Human Genome Research Institute) Also in Spanish ... Frequently Asked Questions about Genetic Disorders (National Human Genome Research Institute) * Genetics: MedlinePlus Genetics ...
... much new knowledge has been gained about the role of genetic factors in common adult disease, and we now have a better ... understanding of the molecular processes involved in genetic susceptibility and disease mechanisms. The Second Edition fully ... Genetic Counseling Research: A Practical Guide. Ian M. MacFarlane, Patricia McCarthy Veach, Bonnie S. LeRoy ... Epsteins Inborn Errors of Development. Third Edition. Robert P. Erickson, Anthony J. Wynshaw-Boris ...
ERYtech Pharma To Present Pre-Clinical Data At The 13th International Congress Of Inborn Errors Of Metabolism - read this ... Classical homocystinuria is a rare, inherited genetic disease caused by a deficiency in the enzyme cystathionine beta-synthase ... ERYTECH has entered into a research collaboration with the Fox Chase Cancer Center (FCCC) to demonstrate the potential of ... Both hyperargininemia and homocystinuria are rare, debilitating genetic diseases, for which there are limited treatment options ...
National Research Council and Committee for the Study of Inborn Errors of Metabolism. Washington, DC: National Academy of ... Genetic Tests and PI Diseases. Advances in molecular biology and genetic technology have facilitated localization of disease ... Genetics and genomics in practice: the continuum from genetic disease to genetic information in health and disease. Genet Med ... Immunodeficiency diseases for which clinical genetic tests or research testing are available, based on information from the ...
Research Interests. Anemia, Iron-Deficiency; Genetic Diseases, Inborn; Hematologic Diseases; Hemochromatosis View Full Profile ... Research Interests. Autoimmune Diseases; Autoimmune Diseases of the Nervous System; Computational Biology; Computing ... Research Interests. Breast Neoplasms; Genetic Structures; Genetic Variation; Information Science; Mathematical Concepts; Nevi ... Research Interests. Cells; Central Nervous System; Central Nervous System Diseases; Embryonic Structures; Hemic and Immune ...
Genetic Counseling [‎4]‎. Genetic Diseases, Inborn [‎12]‎. Genetic Engineering [‎1]‎. Genetic Research [‎2]‎. ...
Genetic Counseling [‎4]‎. Genetic Diseases, Inborn [‎12]‎. Genetic Engineering [‎1]‎. Genetic Research [‎2]‎. ...
This fourth edition of Huntingtons Disease presents a comprehensive summary of the current knowledge of this disease, ... Genetic Counseling Research: A Practical Guide. Ian M. MacFarlane, Patricia McCarthy Veach, Bonnie S. LeRoy ... Epsteins Inborn Errors of Development. Third Edition. Robert P. Erickson, Anthony J. Wynshaw-Boris ... Her work has at the forefront of Huntingtons disease research since establishing her independent research programme in 1994. ...
Research Interests. *Genetic Diseases, Inborn. *Neonatal Surgery. *Pediatrics. *Quality Improvement *Thoracic Surgery, Video- ... Research. *Publications. *A comparison of the breathing apparatus deadspace associated with a supraglottic airway and ...
Assessing the association between DNA variants and disease has been used widely to identify regions of the genome and candidate ... genes that contribute to disease. However, there are numerous examples of associations that cannot be replicated, which has led ... Research Support, U.S. Govt, P.H.S. * Review MeSH terms * Genetic Diseases, Inborn / genetics* ... Association study designs for complex diseases Nat Rev Genet. 2001 Feb;2(2):91-9. doi: 10.1038/35052543. ...
... and Neonatal Diseases and Abnormalities; Pericytes; Genetic Diseases, Inborn; Vascular Malformations ... Research Interests. Aorta; Aortic Diseases; Blood-Brain Barrier; Cardiovascular Diseases; Cerebral Hemorrhage; Elastin; Infant ... Vascular Cells in Blood Vessel Wall Development and Disease.Mazurek R, Dave JM, Chandran RR, Misra A, Sheikh AQ, Greif DM. ... Extensive Research Description. Current project is aimed at understanding key molecular mechanisms responsible for ...
Research Support, U.S. Govt, P.H.S. MeSH terms * Algorithms* * Genetic Diseases, Inborn / diagnosis ...
Inborn defects of metabolism are an important field of molecular genetic and clinical research. Together with the fast progress ... a part of these inborn diseases can be diagnosed and treated at an early stage. In addition, molecular genetic investigations ... of biotechnological research, the number of diseases that are clearly due to genetic defects increases too. On the basis of ... Because of this, we applied methods of CBR to existing medical data on inborn metabolic diseases that is stored in the RAMEDIS ...
... but recent research indicates they are also closely involved with the survival of cells as well. ... Theres also a set of rare, inborn metabolic diseases that stem from genetic changes that alter the function of mitochondrial ... mitochondria research is pinpointing exactly how alterations in mitochondrial machinery lead to disease. Achieving this ... Malfunctioning mitochondria have been implicated in neurodegenerative diseases, heart disease, diabetes, cancer and even ...
2004 Inborn Genetic Diseases: Advances in Research and Treatment: 2011 Edition. ScholarlyEditions. 9 January 2012. pp. 1-. ISBN ... to further determine whether the genetic variant is the true cause of the disease. Stem Cell Research - This program is focused ... Masonic Medical Research Institute is a research organization founded by the Grand Lodge of New York. The institute studies ... and to develop treatments for heart disease. Molecular Genetics - Using genetic sequencing techniques, scientists at the MMRI ...
... catching a disease or not and the severity of the disease mostly depends on ones own genet... ... Within close human groups, catching a disease or not and the severity of the disease mostly depends on ones own genetic ... To add or modify information on this page, please contact us at the following address: community.research@axa.com ... Genome-wide investigation of inborn errors of immunity to human infectious diseases on the individual and population levels. ...
The avoidance of certain substances is the only way to prevent the debilitating long-term effects of inborn congenital ... Green Tea And Wine Compounds Can Help Treat Phenylketonuria And Other Genetic Diseases, New Research Finds. UV70Shutterstock. ... While research focused on applying tannic acids and EGCG to cell clusters in test tubes, the researchers also relied on ... which the scientists say can lead to the creation of new drugs to treat phenylketonuria and other genetic metabolic diseases. ...
Research Topics, Species, Genomes and Genes, Scientific Experts, Publications about familial mediterranean fever ... You are here: Research Topics , diseases , and neonatal diseases and abnormalities hereditary congenital , inborn genetic ... Research Project: Mutations of pyrin cause familial Mediterranean fever (FMF), a disease characterized by spontaneous episodes ... genetic predisposition to disease*serum amyloid a protein*fever*syndrome*hypergammaglobulinemia*inflammation*autoimmune ...
El-Bayoumy, K., Sinha, R. & Richie, J., Jan 1 2015, Diversity of Selenium Functions in Health and Disease. CRC Press, p. 137- ... Impact of genetic targets on prostate cancer therapy. Sheikh, H., Abdulghani, J., Ali, S., Sinha, R. & Lipton, A., Feb 15 2013 ... Erratum: (Cancer Research (October 15, 1995) (4516-4519)). Sinha, R., Jan 1 1995, In : Cancer Research. 55, 22, 1 p.. Research ... Unni, E., Koul, D., Yung, W. K. A. & Sinha, R., Jul 6 2005, In : Breast Cancer Research. 7, 5, R699.. Research output: ...
New applications of disease genetics and pharmacogenetics to drug development. Roses, A. D., Saunders, A. M., Lutz, M. W., ... Journal of Biomedical Materials Research - Part A. 102, 8, p. 2521-2532 12 p.. Research output: Contribution to journal › ... Mei, T., Zhu, Y., Ma, T., He, T., Li, L., Wei, C. & Xu, K., Sep 2014, In : Journal of Biomedical Materials Research - Part A. ... Point-of-Care Microdevices for Blood Plasma Analysis in Viral Infectious Diseases. Yeh, Y. T., Nisic, M., Yu, X., Xia, Y. & ...
Inborn Genetic Diseases Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Jones, S., ... Alzheimers Disease Neuroimaging Initiative, Aug 1 2019, In : PLoS genetics. 15, 8, p. e1008344. Research output: Contribution ... Genetic Epidemiology. 17, SUPPL. 1. Research output: Contribution to journal › Article ... Clinical Cancer Research. 20, 19, p. 5064-5074 11 p.. Research output: Contribution to journal › Article ...
Antibody synthesis by transferred lymphoid cells: The influence of the host genetic environment on the duration of the immune ... Aortoiliac reconstruction for atherosclerotic occlusive disease.. Minken, S. L., DeWeese, J. A., Southgate, W. A., Mahoney, E. ... Harker, R. J., Daggett, R. L. & Gott, V. L., Jan 1968, In : Journal of Surgical Research. 8, 1, p. 10-15 6 p.. Research output ... Fordyce, W. E., Fowler, R. S. & DeLateur, B., Feb 1968, In : Behaviour Research and Therapy. 6, 1, p. 105-107 3 p.. Research ...
demonstrated mutations in cultured somatic cells; he has also conducted much research on inborn errors of metabolism, ... "Uniparental disomy as a mechanism for human genetic disease". American Journal of Human Genetics. 42 (2): 217-226. PMC 1715272 ... Beaudet began his research in the 1960s with studies on protein synthesis. In the 1970s, Beaudet et al. ... published a paper regarding the mechanism by which uniparental disomy might cause certain types of human genetic disease. This ...
The NINDS supports research on genetic disorders such as Barth syndrome, including basic research on mitochondrial dysfunction ... Scientists have identified many of the genetic mutations that cause mitochondrial diseases and have created animal models which ... including basic research on mitochondrial dysfunction and investigations of other inborn errors of metabolism. Scientists have ... The NINDS supports research on genetic disorders such as Barth syndrome, including basic research on mitochondrial dysfunction ...
Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass spectrometry (MS/MS) could simultaneously ... Keywords: disease spectrum; expanded newborn screening; genetic characteristics; hotspot mutation; inborn errors of metabolism ... Research Materials. * NCI CPTC Antibody Characterization Program *. Miscellaneous. * NCI CPTAC Assay Portal ... Disease spectrum and distribution of inborn errors of metabolisms. (A) The percentage of three categories of inborn errors of ...
ARUP Laboratories is a national reference laboratory and a worldwide leader in innovative laboratory research and development. ... Her research interests include the genotype-phenotype correlations in inborn errors of metabolism and genetic diseases in the ... His clinical and research focus is gastrointestinal pathology and the molecular genetics of colorectal cancer. ... Emersons current research interests include molecular characterization of the initiating mutations in lung cancer. ...
  • In the past, our lab has focused primarily on rare monogenic disorders including inborn errors of amino acid metabolism as well as various human retinal degenerations. (hopkinsmedicine.org)
  • In particular, our studies involve clinical, biochemical, molecular and therapeutic aspects of specific human genetic diseases as well as more global studies of the network interactions and consequences of the genes and proteins implicated in human disease. (hopkinsmedicine.org)
  • We also have a special interest in peroxisomal ABC transporters and have produced knockout mice for the genes encoding some of these to elucidate the function of these transporters and their role in human genetic disease. (hopkinsmedicine.org)
  • Assessing the association between DNA variants and disease has been used widely to identify regions of the genome and candidate genes that contribute to disease. (nih.gov)
  • Molecular Biology - Genes suspected of causing genetic mutations are cloned and the mutation is inserted into a heterologous expression system so that the functional effect of the mutation can be evaluated, to further determine whether the genetic variant is the true cause of the disease. (wikipedia.org)
  • He enquires to automate the identification of disease-favoring genes, to ultimately provide a wide array of computational tools for the diagnosis of genetic errors of the immune system, on the individual and population levels. (axa-research.org)
  • Next generation sequencing (NGS) targeting hundreds of IMEs-associated genes as a follow-up test in expanded newborn screening has been used for genetic analysis of patients. (cdc.gov)
  • Finding genes that cause this or that ailment is what most people think of when they think about gene mapping and genetic research, and pinpointing the causes of inborn diseases is certainly one of the obvious and direct payoffs that will come from a better understanding of the dog genome. (theatlantic.com)
  • Additional research interests include: reducing the negative effects of stem cell transplantation (such as using mesenchymal stromal cells for graft-versus-host disease), creation and use of induced pluripotent stem cells, gene therapy using gene addition (with viral vectors and trasposons), or gene editing (with synthetic nucleases to repair genes). (umn.edu)
  • Although finding the genes responsible for such conditions does not automatically lead to a cure, such findings can give important clues about what is going wrong at the cellular level, and animal models carrying these genetic alterations can provide researchers with useful ways to test potential therapies. (genome.gov)
  • Currently, Dr. Roncarolo is designing a gene therapy strategy to correct mutations in IL-10 and IL-10 receptor genes, which cause devastating very early onset inflammatory bowel disease (VEO-IBD), by CRISPR-based gene correction of patient HSPCs. (stanford.edu)
  • We also participate in a multi-centre study to analyse the progression of PKD, renal failure and complications of the disease, to identify and validate new tools to monitor disease progression and to identify modifying genes. (universiteitleiden.nl)
  • Mutations were identified in 46 different genes and more than 90% of the reported genetic defects were transmitted by in an autosomal recessive pattern. (frontiersin.org)
  • Five novel disease-causing genes were discovered. (frontiersin.org)
  • He proposed new ways of thinking about the origins and consequences of disease, including a new model, the "diseasome," which defines human disease not as a stand-alone or isolated set of disorders but as a complex and intricate interplay of multiple actions among and between genes and the environment. (jhu.edu)
  • The crux of moving from the description of a disease to the causative mutation is to first eliminate all but the fewest possible genes that deserve detailed analysis such as expression assays and/or sequencing. (vin.com)
  • Candidate gene association and whole genome are major approaches used in cardiovascular genetics to recognize disease-causing genes. (gminsights.com)
  • Unexpectedly, the news of gene involvement was greeted with enthusiasm among some quarters of the actively drinking alcoholic public: "Since alcoholism is genetic, we can't escape our genes and may as well keep drinking. (ncadd.org)
  • Most PIDs are caused by mutations in single genes but the variable has been suggested that the prevalence and incidence of PIDs may be penetrance of these mutations results in diverse phenotypes and as high as those observed for diseases such as leukaemia. (who.int)
  • In inborn errors of metabolism, we use metabolomics and genomics to identify new disease genes and deepen our understanding of metabolism's role in human health. (utsw.edu)
  • Unique clinical applications of genetics to common diseases are covered in additional new chapters on genetic counselling, pharmacogenetics, and the genetic consequences of modern therapeutics. (oup.com)
  • During the meeting, specialists in clinical immunology, public health, genetics, pediatrics, health communication, and ethics from state and federal agencies, academic centers, professional organizations, and advocacy foundations discussed the four components of the public health framework as they relate to PI diseases. (cdc.gov)
  • Molecular Genetics - Using genetic sequencing techniques, scientists at the MMRI are studying inherited cardiac arrhythmia syndromes, including sudden cardiac death syndromes such as the Long QT syndrome, Short QT syndrome, Brugada syndrome and Early Repolarization syndrome. (wikipedia.org)
  • She is board certified by the American Board of Medical Genetics and Genomics, with a subspecialty in clinical molecular genetics, and certified with the New York State Department of Health, with a subspecialty in genetic testing. (aruplab.com)
  • His clinical and research focus is gastrointestinal pathology and the molecular genetics of colorectal cancer. (aruplab.com)
  • 2 Genetic Clinic, Center for Reproduction and Genetics, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China. (cdc.gov)
  • Such little progress in improving human health in the past 80 years of clinical research can be attributed to the narrow outlook and low dosage orientation of the investigators due to the fact that they were neither qualified by training or competent by experience to be investigating a complicated problem in medical genetics. (abovetopsecret.com)
  • A brief historical review of the development of genetics research will help place such challenges in context. (encyclopedia.com)
  • The second period saw the emergence of genetics as a science and its revolutionary research successes. (encyclopedia.com)
  • Functional genetics and molecular biology of metabolic disorders in general but with focus on inborn errors of isoprenoid/cholesterol biosynthesis and peroxisome biogenesis. (amc.nl)
  • Dorien J.M. Peters is professor of Human Genetics, in particular the molecular and functional genetics of polycystic kidney disease, at the Department of Human Genetics at the Leiden University Medical Center (LUMC). (universiteitleiden.nl)
  • Dorien J.M. Peters performed her PhD-research at the Department of Cell Biology and Genetics of the Science faculty of Leiden University. (universiteitleiden.nl)
  • Subsequently, she became post-doc at the Department of Human Genetics of the LUMC and in 1999 she became group leader of the Developmental Genetics research group, first as assistant professor, in 2000 as associate professor and since 2014 as a full professor. (universiteitleiden.nl)
  • Dr. Vernon was recognized with the 2010 Francis F. Schwentker Award for Excellence in Research at Johns Hopkins University and the 2011 James B. Sidbury Jr. Fellowship in Biochemical Genetics at Johns Hopkins University. (hopkinsmedicine.org)
  • The research of the past decade on the genetics of scurvy provides a new approach to its etiology and a more sensible rationale for the quantitative daily intake of ascorbate (Stone, 1966). (whale.to)
  • Future serious research on scurvy should be within the province of medical genetics and not be conducted by nutritionists and home economists (Stone, 1967). (whale.to)
  • There are many American parents who blame themselves when they have a 5-year-old child who is timid or shy," said Harvard University psychologist Jerome Kagan, who presented his own research on the genetics of inhibited children. (latimes.com)
  • Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. (nih.gov)
  • We have lost a dear friend and a visionary in genetics and pediatrics, a deep and rigorous thinker committed to the integration of genetics and medicine, the individuality of us all and to education at all levels," said David Valle, professor and director of the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins. (jhu.edu)
  • The first director of Genetics in the Department of Pediatrics at Johns Hopkins, Childs made critical contributions to the understanding of the genetic underpinnings of many diseases, including adrenal hyperplasia, Addison's disease and hypoparathyroidism. (jhu.edu)
  • He encouraged many Hopkins colleagues to consider the human diseases they studied in the context of genetics, including prostate cancer, inflammatory bowel disease and dyslexia. (jhu.edu)
  • Dr. Childs believed in nuance and variability from patient to patient and recognized long ago that our emerging understanding of genetics would lead to a new emphasis in medicine where we would be able to treat the individual and not the disease," said George Dover, director of the Johns Hopkins Children's Center. (jhu.edu)
  • PennGen is a genetic testing facility operated through the Section of Medical Genetics at the University of Pennsylvania's School of Veterinary Medicine. (upenn.edu)
  • The Section of Medical Genetics at the School has been in the forefront of reporting hereditary diseases in companion animals for more than 40 years. (upenn.edu)
  • The work of the genetic testing laboratory is enhanced by weekly Pediatrics, Genetics and Reproduction Clinic at The Matthew J. Ryan Veterinary Hospital of the University of Pennsylvania in Philadelphia. (upenn.edu)
  • The laboratory is part of a service that encompasses a genetic testing and counseling program in the School's Section of Medical Genetics. (upenn.edu)
  • The Section of Genetics and Metabolism pursues basic research on numerous inherited conditions. (ucdenver.edu)
  • The Section is also involved in educational research studies on the effectiveness of education in biochemical and clinical genetics for groups of professionals. (ucdenver.edu)
  • Dr. Ying Jin 's research focuses on the genetics of generalized vitiligo and associated autoimmune and autoinflammatory diseases and the effects of iodine on autoimmune thyroid disease. (ucdenver.edu)
  • Ernst Rüdin (1874-1952) [ 11 ] has been credited as the originator of modern psychiatric human genetics on the basis of his research aiming to establish inheritance estimates, that is the risk of a relative developing the same disease as the index patient, which he termed the "empirische Erbprognose" ("empirical heredity prognosis") [ 8 , 10 ]. (prolekare.cz)
  • Decades ago, the survival for children with methylmalonic acidemia was markedly reduced, with many succumbing in the first decade of life," said Charles Venditti, M.D., Ph.D., senior investigator and head of the Organic Acid Research Section in the Genetics and Molecular Biology Branch at NHGRI, and one of the coauthors of the new studies. (eurekalert.org)
  • 6 DST-NRF Centre of Excel ence for Biomedical Tuberculosis Research, South African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stel enbosch University, Cape Town, South Africa. (who.int)
  • Our research is tightly integrated with clinical activities in medical genetics, oncology and radiology, providing seamless opportunities to examine the relevance of our findings in patients. (utsw.edu)
  • The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). (iospress.com)
  • Over the years, his laboratory has discovered the genetic causation for more than 20 diseases, including those responsible for inborn errors of metabolism, inherited retinal degeneration, disorders of cellular organelle biogenesis and genetic variations that contribute risk for common disorders such as schizophrenia. (hopkinsmedicine.org)
  • 10) genetic disorders of peroxisomal biogenesis (e.g. (hopkinsmedicine.org)
  • Genetic tests on blood and other tissue can identify genetic disorders. (medlineplus.gov)
  • Primary immunodeficiency (PI) diseases are a group of primarily single-gene disorders of the immune system. (cdc.gov)
  • A multidisciplinary panel of persons knowledgeable in PI diseases and public health met to identify and discuss public health strategies that can be applied to PI diseases and possibly for other genetic disorders. (cdc.gov)
  • These recommendations, developed by workshop participants, will be useful to medical and public health professionals who are evaluating methods to increase recognition of PI diseases and other genetic disorders. (cdc.gov)
  • Their favorite libation has also been found to contain elements that, the researchers say, could bring new hope for children born with genetic disorders that normally can be treated only by adherence to strict dietary requirements, such as the disease phenylketonuria - a condition that can lead to intellectual disabilities and even serious brain damage if not treated correctly, according to the National Institute of Health . (inquisitr.com)
  • The avoidance of certain substances is the only way to prevent the debilitating long-term effects of inborn congenital metabolic disorders. (inquisitr.com)
  • he has also conducted much research on inborn errors of metabolism, particularly urea cycle disorders. (wikipedia.org)
  • The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. (nih.gov)
  • The NINDS supports research on genetic disorders such as Barth syndrome, including basic research on mitochondrial dysfunction and investigations of other inborn errors of metabolism. (nih.gov)
  • Dr. Tolar's research focuses on finding new ways of treating children with lethal diseases - cancer, inborn errors of metabolism, and devastating genetic disorders - using stem cell transplantation. (umn.edu)
  • CAMBRIDGE, Mass. and BARCELONA, Spain, Nov. 18, 2014 (GLOBE NEWSWIRE) -- Agios Pharmaceuticals, Inc. (Nasdaq:AGIO), a leader in the fields of cancer metabolism and rare genetic disorders of metabolism, today announced the first reported safety and clinical activity for AG-120 from the ongoing Phase 1 dose escalation study in patients with IDH1-mutant positive advanced hematologic malignancies, including acute myeloid leukemia (AML). (globenewswire.com)
  • His group focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria and sialic acid diseases. (genome.gov)
  • Children's is engaged in many types of cancer and blood disorders research, including investigator-initiated studies (led by a Children's clinician), as well as externally sponsored multi-center trials, observational studies and registries. (childrensmn.org)
  • Children's Diabetes and Endocrinology Research program participates in studies that bring cutting-edge treatments for diabetes and endocrine disorders to our patients. (childrensmn.org)
  • After identification of the underlying genetic defect in several disorders of cholesterol biosynthesis, we have shifted our research focus primarily to pathogenetic aspects of the inflammatory metabolic disorder mevalonate kinase deficiency (MKD), which is characterized by recurring episodes of inflammation and high fever. (amc.nl)
  • perform research on Zellweger syndrome and other peroxisomal disorders, and (2. (amc.nl)
  • set up an Enzymology Laboratory, capable of doing selective enzyme assays in patients suspected to suffer from certain inborn errors of metabolism (IEMs) including peroxisomal diseases, fatty acid oxidation disorders, amino oxidation defects, among others. (amc.nl)
  • Hilary Vernon is an associate professor of genetic medicine and a medical biochemical geneticist with expertise in treating inborn errors of metabolism and mitochondrial disorders. (hopkinsmedicine.org)
  • Her research interests include understanding intermediary metabolism in Barth syndrome and in disorders of branch chain amino acid metabolism. (hopkinsmedicine.org)
  • All types of NCL also belong to a larger group of diseases known as lysosomal storage disorders . (nih.gov)
  • Specifically, we are working on the identification and characterization of genetic defects involved in the process of glycosylation and protein transport (CDG syndrome), as well as in other diseases related to mitochondrial dysfunction or neurological disorders due to cerebral glucose transport deficiency, among others. (uam.es)
  • OA1 differs from other causes of orotic aciduria, which may include mitochondrial disorders , lysinuric protein intolerance , and liver disease . (nih.gov)
  • New genetic disorders arise spontaneously and continually in all species and any breed. (vin.com)
  • Other disorders are inherited dominantly, but when they are late-onset, the signs of disease are not apparent until an age when affected animals may have already been used for breeding to produce the next generation. (vin.com)
  • One of the prominent reasons for obesity is genetic variations associated with lipid and carbohydrate metabolism disorders. (gminsights.com)
  • Patients suffering from chronic diseases such as cardiovascular disorders, cancer and diabetes are often recommended by nutritionists and physicians to perform nutrigenomics test. (gminsights.com)
  • Research involves the identification of the genetic basis of inherited disorders, both rare and common. (ucdenver.edu)
  • Clinical research in our Section includes studies to describe the clinical spectrum of disorders, such as skeletal dysplasias, and studies on comprehensive care, including new treatments for neurofibromatosis, lysosomal storage disorders, and phenylketonuria. (ucdenver.edu)
  • The Parkinson Canada Research Program funds research into the cure, cause, progression, improved treatment and/or understanding of Parkinson's disease, related disorders including Multiple System Atrophy (MSA), Progressive Supranuclear Palsy (PSP), other Parkinson's conditions and the impact these diseases have on society. (edu.au)
  • The two IEMs studied are rare genetic disorders in which the body cannot properly turn food into energy. (eurekalert.org)
  • Primary immunodeficiency disease (PID) comprises a genetical y susceptibility to infections, a poorly regulated immune system in PID heterogeneous group of disorders caused by defects in components of patients may lead to inflammation, autoimmunity and malignancy. (who.int)
  • Classical homocystinuria is a rare, inherited genetic disease caused by a deficiency in the enzyme cystathionine beta-synthase (CBS), which is critical for methionine metabolism. (biospace.com)
  • Inborn defects of metabolism are an important field of molecular genetic and clinical research. (egms.de)
  • In this contribution we will present a medical case-based reasoning module to support the diagnosis of inborn defects of metabolism. (egms.de)
  • Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify about 50 kinds of IEMs. (cdc.gov)
  • It has been a record of a serious potentially-fatal genetic liver-enzyme disease, an "inborn error of carbohydrate metabolism" being investigated by nutritionists and home economists. (abovetopsecret.com)
  • Biography: Dr. Gahl studies rare inborn errors of metabolism through the observation and treatment of patients in the clinic, and through biochemical, molecular biological and cell biological investigations in the laboratory. (genome.gov)
  • Professor Kohn has focused his career on the development of hematopoietic stem cell gene therapy for immunodeficiencies, hemoglobinopathies and inborn errors of metabolism. (b3cnewswire.com)
  • Dr. Vernon's current area of study is in inborn errors of metabolism, which cause disturbances of mitochondrial function, including several different organic acidemias and Barth Syndrome. (hopkinsmedicine.org)
  • This disease is an inborn error of carbohydrate metabolism due to humans carrying a defective gene for the synthesis of the enzyme protein, L-gulonolactone oxidase. (whale.to)
  • Mitochondrial energy failure produces a wide range of devastating diseases that affect both adults and children: these diseases can affect any tissue, since all tissues rely on energy they produce, and they are among the commonest inborn errors of metabolism known. (helse-bergen.no)
  • It is a collection of not-for-profit laboratories offering testing for a variety of genetic diseases, metabolic screening for inborn errors of metabolism, hematological and other diagnostic services. (upenn.edu)
  • Inborn errors of metabolism (IEM) are a large group of rare genetic diseases, including any condition in which the impairment of a biochemical pathway is intrinsic to the pathophysiology of the disease. (uam.es)
  • Dr. Jan Kraus is interested in inborn errors of metabolism, homocystinuria, and propionic acidemia in particular. (ucdenver.edu)
  • The Hereditary Tyrosinemia Group (Groupe Aide Aux Enfants Tyrosinemiques Du Quebec) is a non-profit organization in Quebec dedicated to providing information, assistance, and support to parents of children with hereditary tyrosinemia, a rare inborn error of metabolism of the amino acid tyrosine. (rarediseases.org)
  • Many "medical foods" are designed to help manage patients with rare inborn errors of metabolism (IEMs), and can help prevent serious and life-threatening complications. (eurekalert.org)
  • The researchers based their conclusions on more than 10 years of observational studies with large patient groups involving two inborn errors of metabolism. (eurekalert.org)
  • Altered metabolism at the cellular level contributes to several serious diseases including inborn errors of metabolism (the result of inherited genetic defects in metabolic enzymes that lead to chemical imbalances in children) and cancer. (utsw.edu)
  • Inborn errors of metabolism (IEMs) are childhood diseases that mutations in metabolic enzymes and nutrient transporters cause. (utsw.edu)
  • A systematic assessment based on the established public health framework was applied to the growing group of PI diseases, whose diverse genetic mutations span multiple components of the immune system but all lead to increased incidence and severity of infections. (cdc.gov)
  • Scientists have identified many of the genetic mutations that cause mitochondrial diseases and have created animal models which can be used to investigate potential treatments. (nih.gov)
  • Dr. Emerson's current research interests include molecular characterization of the initiating mutations in lung cancer. (aruplab.com)
  • To determine the spectrum, prevalence, and gene mutations of IEMs in newborns in Suzhou, China, 401,660 newborns were screened by MS/MS and 138 patients were referred to genetic analysis by NGS. (cdc.gov)
  • e.g. in diseases caused by mutations in the gene encoding the catalytic subunit of the mitochondrial DNA polymerase (POLG), some patients show involvement of the brain and liver while others show only skeletal muscle disease. (helse-bergen.no)
  • We have been studying diseases caused by mutations in this protein and find that it is the commonest cause of recessively inherited ataxia (unsteadiness) in Norway with two founder mutations each having a prevalence of 1:100. (helse-bergen.no)
  • We are also involved in the development of specific therapeutic strategies targeted to the mechanism of action of the mutations detected in neurometabolic diseases in the era of the personalized medicine. (uam.es)
  • In several rare genetic diseases, current research delineates the spectrum of mutations and how they can predict outcome. (ucdenver.edu)
  • This review reports on the current status of PID on the African continent regarding its prevalence, distribution, genetic mutations and challenges in diagnosis and treatment of affected patients. (who.int)
  • Given the unique genetic mutations reported in PID patients on the African continent and the feasibility of hematopoietic stem cell transplantation and gene therapy, increased awareness should be encouraged and new therapeutic options considered. (who.int)
  • Krabbe disease is caused by mutations in the GALC gene which encodes galactocerebrosidase, an enzyme that degrades galactosylceramide, a normal constituent of myelin. (radiopaedia.org)
  • Background: Anoctaminopathies are muscle diseases caused by recessive mutations in the ANO5 gene. (iospress.com)
  • Genome-wide investigation of inborn errors of immunity to human infectio. (axa-research.org)
  • Cytogenetic and Genome Research , 74 (3), 157-160. (elsevier.com)
  • We have organized VitGene, an international consortium of investigators in multiple countries, and are now performing a very large genome-wide association study of generalized vitiligo (one of the most common autoimmune diseases), which is studying autoimmune thyroid disease in development. (ucdenver.edu)
  • The seemingly autonomous amplification of naturally occurring triplet repeat sequences in the human genome has been implicated in the causation of human genetic disease, such as the fragile X (Martin-Bell) syndrome, myotonic dystrophy (Curshmann-Steinert), spinal and bulbar muscular atrophy (Kennedy's disease) and Huntington's disease. (forskningsdatabasen.dk)
  • However, such special foods may cause harm in some patients when their use is not carefully monitored and managed, according to a research team led by scientists at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. (eurekalert.org)
  • Dr. Gahl has a long-standing research interest in cystinosis, a lysosomal storage disorder caused by a mutation in the CTNS gene. (genome.gov)
  • For the foreseeable future, prevention is the only practical and ethical solution to genetic disease in dogs and cats, and for that, mutation detection is crucial in order to make appropriate breeding decisions. (vin.com)
  • For recessive or late-onset disease, convenient and reliable mutation detection is best achieved with a DNA-based test that can be performed on samples obtained noninvasively. (vin.com)
  • To develop such a test, one must determine the mutation underlying a disorder, and this in turn requires careful investigation of the clinical, pathologic, and genetic aspects of the disorder. (vin.com)
  • I now have two major areas of research: The CAPP programme has now succeeded in establishing that aspirin significantly reduces the risk of cancer in people with Lynch syndrome, the major form of hereditary colorectal cancer. (ncl.ac.uk)
  • Hereditary diseases of companion animals are an important problem for clinicians, breeders and owners. (upenn.edu)
  • These clinics provide counseling and advice on the management of affected animals and on breeding approaches to produce offspring free of genetic diseases, and also aid in the identification of new hereditary diseases. (upenn.edu)
  • Formal genetic psychiatry was established in the early 20th century at a time of therapeutic nihilism, when psychiatry was strongly influenced by the theory of hereditary degeneration [ 1 - 7 ]. (prolekare.cz)
  • The research of the past decade has shown that the disease that is now recognized as scurvy is really the terminal sequelae of a potentially fatal genetic liver-enzyme disease called hypoascorbemia. (whale.to)
  • The market for rare disease products is continuously growing, expecting to reach $176 billion by 2020, with a CGR of 10.5% just for orphan drugs - this is twice the growth rate of the overall prescription drug market (5.3% CGR from 2014-2020). (smi-online.co.uk)
  • In 2000 the MMRI research team uncovered evidence linking Sudden Infant Death Syndrome to a congenital heart defect, the Long QT syndrome (LQTS) published in The New England Journal of Medicine. (wikipedia.org)
  • Recent areas of research focus include pediatric cardiothoracic surgery, pediatric intensive care, cardiac catheterization, extracorporeal membrane oxygenation (ECMO) and adult congenital heart disease. (childrensmn.org)
  • The purpose of this study is to identify the biochemical/genetic defects in erythropoietic protoporphyria (EPP). (clinicaltrials.gov)
  • In this study, the investigators hope to learn the nature of the biochemical/genetic defects in EPP because this may help explain the severity of these clinical features. (clinicaltrials.gov)
  • Together with the fast progress of biotechnological research, the number of diseases that are clearly due to genetic defects increases too. (egms.de)
  • This line focusses on the identification and characterization of defects in human peroxisome biogenesis and on developing therapeutic approaches for patients with relatively mild peroxisomal disease. (amc.nl)
  • 600 different patients with a defect in peroxisome biogenesis to different genetic complementation groups followed by characterization of the gene defects. (amc.nl)
  • Several of our Section's large studies involve gene discovery in complex diseases, including various autoimmune diseases and cleft lip and palate, one of the most common birth defects. (ucdenver.edu)
  • Most important, prompt diagnosis and treatment can now lead to life-saving treatment and result in marked improvements in the quality and length of life for persons with PI diseases. (cdc.gov)
  • In addition, molecular genetic investigations are used by proving the assumed genetic defect for a higher quality of the diagnosis and to enable a precise therapy. (egms.de)
  • The collection of relevant patient data in electronic case reports and its analysis by case-based methods will be helpful for diagnosis and therapy of inborn metabolic diseases. (egms.de)
  • Making a diagnosis for a genetic or rare disease can often be challenging. (nih.gov)
  • Dr. Stephen Goodman studies the inborn errors of amino, organic and fatty acid oxidation, with a particular interest in the pathogenesis of striatal degeneration in glutaric academia type 1. (ucdenver.edu)
  • In our favor is that simply inherited diseases demonstrate remarkably consistent age of onset, signs, laboratory abnormalities, and progression. (vin.com)
  • Dr. Bronner's honors include her election as president of the GI Pathology Society, election as council member of the United States and Canadian Academy of Pathology, and, in 2005, the award of the Arthur Purdy Stout Prize, recognizing her work as a surgical pathologist under the age of 45 whose research publications have had a major impact on diagnostic pathology. (aruplab.com)
  • People with EPP have skin sensitivity to sunlight and occasionally develop liver disease. (clinicaltrials.gov)
  • Despite current treatments, the disorder can cause recurrent episodes of metabolic acidosis (when the body produces too much acid, or when the kidneys are not removing enough acid from the body), feeding difficulties, poor growth, enlarged liver, kidney disease, pancreatitis (inflammation of the pancreas), intellectual disability and early death. (eurekalert.org)
  • Although the NCLs were historically classified according to their age of onset and clinical symptoms, the most recent classification system is primarily based on their underlying genetic cause . (nih.gov)
  • Exacting clinical information that includes signalment, evaluation of all body systems, age of disease onset, progression of signs, clinical laboratory data, histopathology, metabolic screening, and appropriate provocative tests must be obtained from each animal that appears to be affected by the disorder. (vin.com)
  • An updated description of the comprehensive care for Huntington's disease, featureing a new chapter on preclinical therapeutics and a completely rewritten chapter on the state of the art of experimental therapeutics and clinical trials. (oup.com)
  • More recently, Beaudet has published research on the possible association between the deficiency of a carnitine biosynthesis gene and risk of autism in boys, and has contended that some of these cases of autism may be preventable through carnitine supplementation. (wikipedia.org)
  • Dr. Maria Grazia Roncarolo is a pioneer in cell and gene therapy for genetic diseases and a world-renowned expert in immune regulation. (stanford.edu)
  • Her breakthrough translational research intersects two distinct but interrelated areas: inducing immune tolerance following hematopoietic stem cell and progenitor cell transplantation (HSPCT) and designing novel gene and cell therapy approaches for patients with inborn errors of immunity and hematological malignancies. (stanford.edu)
  • This milestone in gene therapy was integral in the implementation of stem cell and gene therapies for other severe inherited diseases, including Wiskott-Aldrich syndrome (WAS) and metachromatic leukodystrophy (MLD). (stanford.edu)
  • As the founder of the CDCM, Dr. Roncarolo continues to lead clinical translation of cell and gene therapy approaches aimed at curing patients with incurable diseases. (stanford.edu)
  • Children's Minnesota has garnered national attention for its research in areas of clinical outcomes such as the collaborative discovery of the DICER1 gene by our hematology/oncology research team. (childrensmn.org)
  • His work includes the development of tools for efficient gene addition or correction, and persistent transgene expression, for the amelioration of genetic disease. (b3cnewswire.com)
  • Professor Bobby Gaspar, chief scientific officer of Orchard said, "This prestigious award recognizes the pioneering work of professor Kohn in advancing cutting-edge research for hematopoietic stem cell gene therapy. (b3cnewswire.com)
  • Orchard Therapeutics is a privately held clinical-stage biotechnology company dedicated to transforming the lives of patients with rare diseases through innovative gene therapies. (b3cnewswire.com)
  • Since many of the diseases are recessively inherited, tests to identify carriers, which are clinically asymptomatic but can pass on the disease-associated version of the gene (mutant allele) have been developed. (upenn.edu)
  • If so, the evidence suggests a confluence of many gene effects rather than the dominant/recessive results of inheritance in Mendelian models of genetic death, as for example, in Huntington's Disease. (ncadd.org)
  • And he collaborated with his wife, Ann Pulver, also of Hopkins, in seminal studies of the genetic basis of schizophrenia and other neuropsychiatric diseases. (jhu.edu)
  • Dr. Yuval Itan wishes to unveil genetic predisposition to infectious diseases, individually and on a population-wide scale. (axa-research.org)
  • The mission of the ICOPHAI (International Congress on Pathogens at the Human-Animal‎Interface) consortium is to accelerate the global capacity and knowledge sharing with a goal of‎building capacity to effectively reduce the burden of the infectious diseases, environmental‎hazards, and contributing risk factors using the "One Health" platform. (edu.qa)
  • During the 4thICOPHAI congress that was held in Doha between November 7th to 9th, 2017 we have invited ‎internationally renowned speakers to talk about emerging and re-emerging infectious diseases, ‎climate changes and impact on global health‎, antimicrobial resistance and drug related issues, as ‎well as biosecurity, biodefense, vaccine development ‎and others. (edu.qa)
  • Krabbe disease , also known as globoid cell leukodystrophy , is an autosomal recessive lysosomal storage disease resulting in damage to cells involved in myelin turn over. (radiopaedia.org)
  • It is similar in etiology to the many other genetic-enzyme diseases like PKU, galactosemia, alkaptonuria, and the thousand-odd others. (whale.to)
  • Their patients are primarily babies who have severe problems, including premature births, inborn diseases, genetic diseases, or malformations, as well as infants of difficult births. (payscale.com)
  • Primary immunodeficiency diseases (PIDs) comprise a heterogeneous group of monogenic inborn errors of immunity with a wide spectrum of clinical manifestations. (frontiersin.org)
  • Significant growth can be attributed to increasing prevalence of cardiovascular diseases across the globe. (gminsights.com)
  • Thus, nutrigenomics testing provides scientific evidence for defining individual's personalized nutrition to prevent cardiovascular diseases and promote health. (gminsights.com)
  • Dr. David Valle is the director of the Institute of Genetic Medicine and professor of pediatrics and ophthalmology at the Johns Hopkins School of Medicine. (hopkinsmedicine.org)
  • Dr. Hilary Vernon is an Associate Professor of pediatrics at the McKusick Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine. (hopkinsmedicine.org)
  • Dr. Roncarolo is currently leading a small but vibrant lab comprised of three post-doctoral fellows, one graduate student in the Stem Cell Biology program, two life-science research professionals, one CIRM scholar and one Instructor of Pediatrics. (stanford.edu)
  • fellow at the Laboratory of Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam. (amc.nl)
  • Barton Childs, professor emeritus of pediatrics at the Johns Hopkins University School of Medicine and a legendary geneticist and teacher who influenced the practice of generations of physicians and shaped their understanding of inherited disease, died Feb. 18 at The Johns Hopkins Hospital after a short illness. (jhu.edu)
  • Since the first edition of this highly acclaimed text was published in 1992, much new knowledge has been gained about the role of genetic factors in common adult disease, and we now have a better understanding of the molecular processes involved in genetic susceptibility and disease mechanisms. (oup.com)
  • Our research aims to understand molecular mechanisms and pathophysiology of inherited or inborn errors of human development and differentiation. (universiteitleiden.nl)
  • For select genetic conditions, we are examining the mechanisms by which genetic changes lead to clinical symptoms. (ucdenver.edu)
  • This research involves basic scientific concepts, such as mechanisms of neuronal development, and opens the possibility for new therapeutic avenues, which we can then further pursue in translational clinical studies. (ucdenver.edu)
  • Dr. Kenneth Maclean 's research group uses a range of molecular, biochemical, and behavioral techniques in conjunction with transgenic and knockout mouse models to investigate the pathological mechanisms that underlie the clinical sequelae of cystathionine beta-synthase deficient homocystinuria, Down syndrome, and Fragile X syndrome. (ucdenver.edu)
  • Heart Hospital provides cardiovascular care to over 95% of patients in the country, which makes it an ideal center for research both epidemiologic and translational. (edu.qa)
  • In this context, our objectives, aligned with the worldwide aims in translational research in rare diseases, are addressed to improve the knowledge of IEM towards tailored treatments. (uam.es)
  • Translational research efforts are bringing these new findings to clinical care through our service laboratories. (ucdenver.edu)
  • The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases. (iospress.com)
  • Over the past two decades, Dr. Gahl's laboratory has elucidated the pathogenesis of this disease and demonstrated the safety and efficacy of cysteamine (²-mercaptoethylamine) therapy, a treatment that depletes cells of cystine. (genome.gov)
  • These support individuals conducting leukaemia research, restricted to studies of the leukaemogenic agents, the epidemiology, pathogenesis, immunology and genetic basis of leukaemia and related diseases. (edu.au)
  • In recent decades ever-increasing efforts and ingenuity were invested in identifying Biblical Israelite genotypic common denominators by analysing an assortment of phenotypes , like facial patterns, blood types, diseases, DNA-sequences, and more. (frontiersin.org)
  • Since its inception in 2009, the group has grown to include over 20 investigators and 40 ongoing research projects ranging from investigator-initiated studies to sponsored multicenter clinical trials. (childrensmn.org)
  • Dr. Vernon also co-directs the Department of Genetic Medicine Clinical Trials Unit, and is the principal investigator on multiple clinical trials for rare diseases. (hopkinsmedicine.org)
  • She was project leader of several multidisciplinary national and international (FP7) research networks and is currently coordinating the Dutch 'Developing Interventions to hold Progression of Autosomal Dominant Polycystic Kidney Disease (DIPAK)' consortium. (universiteitleiden.nl)
  • 2. Characterization of a novel mitochondria-to-nucleus stress signaling in cells subjected to mitochondrial specific genetic, and or, metabolic stress, which operates through altered [Ca2+]c, and the role of mitochondrial stress signaling in tumor progression and metastasis. (upenn.edu)
  • Therapy primarily centers on hematopoietic stem cell transplantation which can delay disease progression 11 . (radiopaedia.org)
  • Genetic science, genetic technologies, genetically based diseases, animal and human cloning, and genetically modified organisms are regular visitors to the news and entertainment culture. (encyclopedia.com)
  • One form appears in those who have a genetically-based insensitivity to alcohol-an "inborn tolerance," and develop alcohol dependence at much higher rates than alcohol sensitive comparison groups. (ncadd.org)
  • Malfunctioning mitochondria have been implicated in neurodegenerative diseases, heart disease, diabetes, cancer and even resistance to radiation therapy. (livescience.com)
  • Erythropoietic protoporphyria (EPP) is a human genetic/metabolic disorder in which accumulation of the compound protoporphyrin causes skin sensitivity to sunlight. (clinicaltrials.gov)
  • In the broadest sense, my research interests include understanding all aspects of the role of genetic factors in human health and disease. (hopkinsmedicine.org)
  • Chapters on the evolution of human genetic disease and on animal models add important background on the complexities of these diseases. (oup.com)
  • Stem Cell Research - This program is focused on generating induced pluripotent stem cells to be used in testing the safety and efficacy of new drugs, and also for the creation of human models of heart disease to improve understanding of arrhythmic syndromes and to custom design treatments and cures. (wikipedia.org)
  • Within close human groups, catching a disease or not and the severity of the disease mostly depends on one's own genetic background. (axa-research.org)
  • In 1988, Beaudet's laboratory published a paper regarding the mechanism by which uniparental disomy might cause certain types of human genetic disease. (wikipedia.org)
  • In May of 2004, NIDDK sponsored "Protein Mis-folding and Mis-processing in Disease" a scientific conference that underscored the importance of protein folding and protein processing by cellular quality control systems in the manifestation of inherited human disease. (nih.gov)
  • It holds that shared behavioral norms, and the social and economic differences between human groups - primarily races, classes, and sexes - arise from inherited, inborn distinctions and that society, in this sense, is an accurate reflection of biology ( Gould, 1981 , p. 20). (frontiersin.org)
  • Physiological role of peroxisomes in human health and disease with special emphasis on the enzymology and transport properties of peroxisomes. (amc.nl)
  • If you just want to avoid the terminal signs of the disease, then the vitamin-like levels are OK, but if you are interested in fully correcting this human genetic defect, then daily doses of ascorbate of a different order of magnitude are required. (whale.to)
  • Although none of the researchers has found any direct genetic link to human behavior, their work indicates that such traits are a matter of inborn biology, not improper parenting. (latimes.com)
  • The controversial research, which examines the genetic underpinnings of human behavior and temperament, is a tantalizing hint of a future in which scientists may have biological and chemical markers for a range of inherited temperamental moods, from sadness and disgust to awe and astonishment. (latimes.com)
  • Several researchers Saturday went out of their way to downplay the importance of heredity in shaping human emotional traits, noting that a child's environment plays an important role in tempering or eliminating inborn emotional traits. (latimes.com)
  • These "induced pluripotent stem cells" (iPSC) offer a unique opportunity to model human disease in a renewable and tissue specific manner. (helse-bergen.no)
  • In addition, it remains an important means to dissect DNA markers from any organism, eukaryotic and prokaryotic, and has resulted in generating disease associated DNA sequences from both human and animal genomes. (elsevier.com)
  • Investigation of genetic disease in dogs and cats benefits everyone involved and the animal and human communities at large. (vin.com)
  • Genetic immunodeficiencies such as CGD also provide unique opportunities to study the roles of specific elements of the immune system in human health. (nih.gov)
  • Scientists funded by the National Institutes of Health are discovering there's more to mitochondria than meets the eye, especially when it comes to understanding and treating disease. (livescience.com)
  • A current challenge in - and goal of - mitochondria research is pinpointing exactly how alterations in mitochondrial machinery lead to disease. (livescience.com)
  • Because people affected by mitochondrial disease often have a mixture of healthy and mutant mitochondria in their cells, effective therapy could involve getting the healthy mitochondria to take over for the diseased ones. (nih.gov)
  • The mission of the Clinical Pathophysiology Section is to study the genetic causes and the biological consequences of inborn diseases of phagocytic blood cells. (nih.gov)
  • We report and analyze the consequences of genetic or pharmacological modulation of MMP levels on the inflammation of skeletal muscles and their repair in light of experimental findings. (iospress.com)
  • In the MMA study, led by Irini Manoli, M.D., Ph.D., a clinical and biochemical geneticist in NHGRI's Organic Acid Research Section, 61 patients enrolled from metabolic treatment centers across the United States and abroad were evaluated at the NIH Clinical Center between 2004 and 2014. (eurekalert.org)
  • To determine if abnormal mitoferrin-1 (MFRN1) expression contributes to the phenotype of individuals with the genetic/metabolic disorder EPP. (clinicaltrials.gov)
  • Others address the genetic and molecular basis of spondyloarthropathies, lupus, hemochromatosis, IgA deficiency, mental retardation, hearing loss, and the role of mitochondrial variation in adult diseases. (oup.com)
  • Within its description are varied information about main data, laboratory parameters, symptoms, therapy information and molecular genetic data. (egms.de)
  • Behaviour Research and Therapy. (elsevier.com)
  • Children's focuses on research that seeks to improve the day-to-day quality of life for children and teens, including minimizing effects of chemotherapy through physical therapy, finding new ways to improve physical function in children undergoing cancer treatment, and improving fatigue and related symptoms. (childrensmn.org)
  • Although diverse, PI diseases share the common feature of susceptibility to infection and result in substantial morbidity and shortened life spans. (cdc.gov)
  • The Task Force has seven core members, including two co-chairs, drawn from research and business leaders who have proven ability to bring new therapies to market in Canada and science advisor members who will review and provide advice on projects within their area of expertise. (gc.ca)
  • 2. 45 mg of ascorbate will prevent the appearance of the terminal symptoms of the disease but will not do much else. (abovetopsecret.com)
  • This table lists symptoms that people with this disease may have. (nih.gov)
  • For most diseases, symptoms will vary from person to person. (nih.gov)
  • People with the same disease may not have all the symptoms listed. (nih.gov)
  • Do you have more information about symptoms of this disease? (nih.gov)
  • Related diseases are conditions that have similar signs and symptoms. (nih.gov)
  • View as a disease, alcoholism takes on the characteristics of a remitting-relapsing illness with primary symptoms that direct us to brain functioning. (ncadd.org)
  • What other disease/condition shares some of these symptoms? (clinicaladvisor.com)
  • For many, but not all personality characteristics, about 40% to 60% seems to be genetic," said H. Hill Goldsmith, the behavioral geneticist who conducted the Wisconsin research. (latimes.com)
  • The purpose of this PAR is to invite qualified scientific investigators to submit applications designed to identify small molecule reagents that specifically prevent or ameliorate a protein folding or processing defect in simple and complex genetic diseases that are of interest to the participating institutes. (nih.gov)
  • The goal of this PAR is to invite applications to identify and optimize small molecule reagents of any kind that specifically ameliorate a protein folding or processing defect in inherited diseases. (nih.gov)
  • Further, using new technology (CRISPR-cas) that allows us to correct the genetic defect in living cells, the iPSC that are the patient's own cells, will have the disease causing corrected and this will open the way for potential treatment using stem cells differentiated to whichever tissue is required. (helse-bergen.no)
  • The purpose of the study is to collect a variety of blood samples that may then be used to investigate advances and potential new drug treatments for sickle cell disease. (clinicaltrials.gov)
  • Cardiac Electrophysiology - This program uses experimental models to examine the root cause of cardiac arrhythmias (abnormal heart rhythms) and to develop treatments for heart disease. (wikipedia.org)
  • Under the leadership of Bill Wheeler, MD and Anne Griffiths, MD , we intend to play a significant role in the development of new treatments and other research that benefits all involved in PCD research and care. (childrensmn.org)
  • Professor Kohn commented, "I am deeply honored to be recognized by the Pediatric Blood and Marrow Transplant Consortium with their Lifetime Achievement Award and look forward to continuing the development of transformative treatments for patients with severe and life-threatening diseases. (b3cnewswire.com)
  • NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. (rarediseases.org)
  • The research team closely monitored their treatments and responses. (eurekalert.org)
  • To present the genetic causes of patients with primary immune deficiencies (PIDs) in Kuwait between 2004 and 2017. (frontiersin.org)
  • In 1983 Wanders joined the Laboratory Genetic Metabolic Diseases at the Academic Medical Center (AMC) of the University of Amsterdam (UvA) as postdoc with the objective to: (1. (amc.nl)
  • He is full professor in Clinical Enzymology of IEMs since 1996, and is Head of the Laboratory Genetic Metabolic Diseases since 2003. (amc.nl)
  • 88-'96: Associate Professor and Head of the section Enzymology of Inherited Metabolic Diseases, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam. (amc.nl)
  • 96-present: Professor of Clinical Enzymology & Inherited Metabolic Diseases, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam. (amc.nl)
  • 03-present: Head of the laboratory of Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam. (amc.nl)
  • The School of Veterinary Medicine at the University of Pennsylvania has established the Josephine Deubler Genetic Disease Testing Laboratory. (upenn.edu)
  • The Agricultural Systems and Microbial Genomics Laboratory (ASMG Laboratory) was established to support Dr. Dou and Dr. Pitta in their research endeavors. (upenn.edu)
  • Dr. Gallin has served as director of the NIAID intramural research program (1985-1994) and as chief of the Laboratory of Host Defenses (1991-2003). (nih.gov)
  • Characterization of a genetic disease requires an integrated approach and the cooperative expertise of a variety of individuals including breeders, practicing veterinarians, geneticists, and molecular biologists. (vin.com)
  • Genetic Epidemiology. (dundee.ac.uk)
  • We evaluated all studies published from the African continent in the field of PID dealing with prevalence, epidemiology, case reports and genetic findings. (who.int)
  • Given this information, SMi are proud to announce our 9th Annual Orphan Drugs and Rare Diseases conference, aiming to bring together solution providers, biotechnology companies, clinical researchers, regulatory professionals and charity leaders together to discuss possible ways to accelerative orphan drug development and access to rare disease patients, including the introduction of recent technologies and products to help aid the access of orphan drugs. (smi-online.co.uk)