Genetic Research: Research into the cause, transmission, amelioration, elimination, or enhancement of inherited disorders and traits.Biological Specimen Banks: 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.Minors: A person who has not attained the age at which full civil rights are accorded.Research Subjects: Persons who are enrolled in research studies or who are otherwise the subjects of research.Ethics, Research: The moral obligations governing the conduct of research. Used for discussions of research ethics as a general topic.Genetics, Medical: 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 Personnel: Those individuals engaged in research.Ethics Committees, Research: Hospital or other institutional committees established to protect the welfare of research subjects. Federal regulations (the "Common Rule" (45 CFR 46)) mandate the use of these committees to monitor federally-funded biomedical and behavioral research involving human subjects.Genetics: The branch of science concerned with the means and consequences of transmission and generation of the components of biological inheritance. (Stedman, 26th ed)Informed Consent: 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.Duty to Recontact: The ethical and/or legal obligation of a health provider or researcher to communicate with a former patient or research subject about advances in research relevant to a treatment or to a genetic or other diagnostic test provided earlier, or about proposed new uses of blood or tissue samples taken in the past for another purpose.Research: 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)Disclosure: Revealing of information, by oral or written communication.Public Opinion: The attitude of a significant portion of a population toward any given proposition, based upon a measurable amount of factual evidence, and involving some degree of reflection, analysis, and reasoning.Parental Consent: Informed consent given by a parent on behalf of a minor or otherwise incompetent child.Confidentiality: The privacy of information and its protection against unauthorized disclosure.Privacy: The state of being free from intrusion or disturbance in one's private life or affairs. (Random House Unabridged Dictionary, 2d ed, 1993)Attitude: An enduring, learned predisposition to behave in a consistent way toward a given class of objects, or a persistent mental and/or neural state of readiness to react to a certain class of objects, not as they are but as they are conceived to be.Social Discrimination: Group behavior toward others by virtue of their group membership.Psychiatry: The medical science that deals with the origin, diagnosis, prevention, and treatment of mental disorders.Tissue Banks: Centers for acquiring, characterizing, and storing organs or tissue for future use.Genetic Testing: 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.Truth Disclosure: Truthful revelation of information, specifically when the information disclosed is likely to be psychologically painful ("bad news") to the recipient (e.g., revelation to a patient or a patient's family of the patient's DIAGNOSIS or PROGNOSIS) or embarrassing to the teller (e.g., revelation of medical errors).Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Researcher-Subject Relations: Interaction between research personnel and research subjects.Molecular Biology: A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.United StatesGenome-Wide Association Study: An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.Research Support as Topic: Financial support of research activities.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.National Institutes of Health (U.S.): 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.Consumer Participation: Community or individual involvement in the decision-making process.Patient Selection: 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.Research Design: 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.Genetic Variation: Genotypic differences observed among individuals in a population.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Nursing Research: Research carried out by nurses, generally in clinical settings, in the areas of clinical practice, evaluation, nursing education, nursing administration, and methodology.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Genetic Techniques: Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.Genetics, Population: 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.Genome, Human: 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.Questionnaires: 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.Attitude to Health: Public attitudes toward health, disease, and the medical care system.Health Services Research: 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)Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Translational Medical Research: 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.Interviews as Topic: Conversations with an individual or individuals held in order to obtain information about their background and other personal biographical data, their attitudes and opinions, etc. It includes school admission or job interviews.Family: A social group consisting of parents or parent substitutes and children.Genetic Association Studies: 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.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).

*  Famous Geneticists & Scientists in Genetic Research

From Gregor Mendal to current cutting-eduge research, learn all about the exciting career of a geneticist. ... These prolific scientists of genetic research have discovered the causes of mutations and disorders as well as help develop ... Craig Venter is arguably one of the most famous scientists in genetics research. He was involved in the race to map the human ... He did ground-breaking research in the structure of the cell and its functioning.. By Sonal Panse May 23, 2011 ...
brighthub.com/science/genetics/topics/scientists.aspx

*  Genetic research addresses fatalities due to sepsis

Genetic research addresses fatalities due to sepsis. September 17, 2012 Credit: Thinkstock The genetics of a patient affects ... Statistical analysis of the data linked the genetic variants identified with probability of mortality. Furthermore, the ... HealthDay)-A widening waistline may make for shrinking numbers of sperm, new research suggests. ...
https://medicalxpress.com/news/2012-09-genetic-fatalities-due-sepsis.html

*  Depression References

The Obesity Research Program. Diabetes. 1993 May;42(5):662-9.. *Rabkin JG, McElhiney MC et al. Placebo-controlled trial of ... The CRF system, stress, depression and anxiety-insights from human genetic studies. Mol Psychiatry. 2010 Jun;15(6):574-88. ... Journal of Psychosomatic Research, 48(2), 177-185.. *Adams PW, Rose DP, et al. Effect of pyridoxine hydrochloride (vitamin B6) ... Whether it is the latest research on how to reduce heart disease, slow the aging process, or prevent brain aging, Life ...
lifeextension.com/dpt5/ch49

*  Ethical Issues of Therapies

Genetic research has advanced in a dramatic fashion in the last decade or so, to the point where it has now become possible to ... Stem Cell Research offers great promise for understanding basic mechanisms of human development and differentiation, as well as ... Current gene therapy research has focused on treating individuals by targeting the therapy to body cells such as bone marrow or ... 10th World Congress and Expo on Cell & Stem Cell Research. New York, USA ...
https://omicsonline.org/conferences-list/ethical-issues-of-therapies

*  DMOZ - Health: Conditions and Diseases: Genetic Disorders: Organizations

Dana's Angels Research Trust Information from this charitable organization on Niemann-Pick Type C disease and how individuals ... Genetic Alliance Group Information about this UK umbrella group of organizations working together to improve services for ... in core human genetics research and aims to raise funds to enable scientists to discover cures and treatments for genetic ... Information, support and advocacy for families affected by Lysosomal Storage Diseases, a group of rare genetic diseases. ...
dmoztools.net/Health/Conditions_and_Diseases/Genetic_Disorders/Organizations/

Return of results: Return of results is a concept in research ethics which describes the extent of the duty of a researcher to reveal and explain the results of research to a research participant.UK Biobank: UK Biobank is a large long-term biobank study in the United Kingdom (UK) which is investigating the respective contributions of genetic predisposition and environmental exposure (including nutrition, lifestyle, medications etc.) to the development of disease.Research participant: A research participant, also called a human subject or an experiment, trial, or study participant or subject, is a person who participates in human subject research by being the target of observation by researchers.David Rimoin: David Lawrence Rimoin (November 9, 1936 – May 27, 2012) was a Canadian American geneticist. He was especially noted for his research into the genetics of skeletal dysplasia (dwarfism), inheritable diseases such as Tay–Sachs disease, and diabetes.Walter Reed Army Institute of ResearchAndrew Dickson WhitePublic opinion on nuclear issues: Public opinion on nuclear issues is the aggregate of attitudes or beliefs held by the adult population concerning nuclear power, nuclear weapons and uranium mining.Legal status of tattooing in the United States: In the United States, there is no federal law regulating the practice of tattooing. However, all 50 states and the District of Columbia have statutory laws requiring a person receiving a tattoo be 18 years of age or older.Medix UK Limited: Medix UK Limited is a UK-based market research consultancy providing online research in healthcare.Privacy Center: Privacy Center is a form of ransomware that hijacks a Microsoft Windows operating system and insists that the upgrades their protection for a price. It is a green system tray icon that often takes over the screen and blocks the desktop, including the start icon.Hukou systemCross-cultural psychiatry: Cross-cultural psychiatry, transcultural psychiatry, or cultural psychiatry is a branch of psychiatry concerned with the cultural context of mental disorders and the challenges of addressing ethnic diversity in psychiatric services. It emerged as a coherent field from several strands of work, including surveys of the prevalence and form of disorders in different cultures or countries; the study of migrant populations and ethnic diversity within countries; and analysis of psychiatry itself as a cultural product.Certified Tissue Bank Specialist: A Certified Tissue Bank Specialist (CTBS) designation is a professional certification mark for Tissue Banking Professionals conferred by the American Association of Tissue Banks (AATB). AATB oversees musculoskeletal, cardiovascular, skin and reproductive tissue banks in the United States.Dda (DNA-dependent ATPase): Dda (short for DNA-dependent ATPase; also known as Dda helicase and Dda DNA helicase) is the 439-amino acid 49,897-atomic mass unit protein coded by the Dda gene of the bacteriophage T4 phage, a virus that infects enterobacteria.List of Parliamentary constituencies in Kent: The ceremonial county of Kent,Population stratification: Population stratification is the presence of a systematic difference in allele frequencies between subpopulations in a population possibly due to different ancestry, especially in the context of association studies. Population stratification is also referred to as population structure, in this context.Ontario Genomics Institute: The Ontario Genomics Institute (OGI) is a not-for-profit organization that manages cutting-edge genomics research projects and platforms.The Ontario Genomics Institute OGI also helps scientists find paths to the marketplace for their discoveries and the products to which they lead, and it works through diverse outreach and educational activities to raise awareness and facilitate informed public dialogue about genomics and its social impacts.Genetic variation: right|thumbPhenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Genetic linkage: Genetic linkage is the tendency of alleles that are located close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genes whose loci are nearer to each other are less likely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be genetically linked.Panmixia: Panmixia (or panmixis) means random mating.King C and Stanfield W.Closed-ended question: A closed-ended question is a question format that limits respondents with a list of answer choices from which they must choose to answer the question.Dillman D.DNA sequencer: A DNA sequencer is a scientific instrument used to automate the DNA sequencing process. Given a sample of DNA, a DNA sequencer is used to determine the order of the four bases: G (guanine), C (cytosine), A (adenine) and T (thymine).Science Translational Medicine: Science Translational Medicine is an interdisciplinary medical journal established in October 2009 by the American Association for the Advancement of Science.Psychiatric interview: The psychiatric interview refers to the set of tools that a mental health worker (most times a psychiatrist or a psychologist but at times social workers or nurses) uses to complete a psychiatric assessment.Microsatellite: A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 2–5 base pairs) are repeated, typically 5-50 times. Microsatellites occur at thousands of locations in the human genome and they are notable for their high mutation rate and high diversity in the population.

(1/247) Indigenous peoples and the morality of the Human Genome Diversity Project.

In addition to the aim of mapping and sequencing one human's genome, the Human Genome Project also intends to characterise the genetic diversity of the world's peoples. The Human Genome Diversity Project raises political, economic and ethical issues. These intersect clearly when the genomes under study are those of indigenous peoples who are already subject to serious economic, legal and/or social disadvantage and discrimination. The fact that some individuals associated with the project have made dismissive comments about indigenous peoples has confused rather than illuminated the deeper issues involved, as well as causing much antagonism among indigenous peoples. There are more serious ethical issues raised by the project for all geneticists, including those who are sympathetic to the problems of indigenous peoples. With particular attention to the history and attitudes of Australian indigenous peoples, we argue that the Human Genome Diversity Project can only proceed if those who further its objectives simultaneously: respect the cultural beliefs of indigenous peoples; publicly support the efforts of indigenous peoples to achieve respect and equality; express respect by a rigorous understanding of the meaning of equitable negotiation of consent, and ensure that both immediate and long term economic benefits from the research flow back to the groups taking part.  (+info)

(2/247) Genetic medicine: an experiment in community-expert interaction.

This project tested a two-way model of communication between lay groups and experts about genetic medicine in Perth, Western Australia. Focus group discussion with community group participants was followed by a communication workshop between community group participants and experts. Four groups of concerns or themes emerged from discussion: clinical considerations; legislative concerns; research priorities, and ethical and wider considerations. Community group concerns are not always met by the actions of "experts". This is, in part, because of the differing life-worlds of each group. However, the communication workshop showed the potential of two-way communication for both lay and expert members in understanding the others' viewpoint. Further, the approach developed here offers one possible way for community groups to participate in a substantial way in policy formulation processes.  (+info)

(3/247) Public deliberation and private choice in genetics and reproduction.

The development of human genetics raises a wide range of important ethical questions for us all. The interpersonal dimension of genetic information in particular means that genetics also poses important challenges to the idea of patient-centredness and autonomy in medicine. How ought practical ethical decisions about the new genetics be made given that we appear, moreover, no longer to be able to appeal to unquestioned traditions and widely shared communitarian values? This paper argues that any coherent ethical approach to these questions must be able both to uphold the moral status of the individual and at the same time recognise the communitarian, interpersonal dimensions both of the world in which we live and of personal autonomy itself. The paper then goes on to propose an approach to the resolution of the ethical questions raised by the use of the new genetics in reproductive choice through the development of a coherent and principled process of public reason and justification oriented towards the support and development of personal autonomy.  (+info)

(4/247) The case for a new system for oversight of research on human subjects.

The increasing emphasis on evidence-based clinical practice has thrown into sharp focus multiple deficiencies in current systems of ethical review. This paper argues that a complete overhaul of systems for ethical oversight of studies involving human subjects is now required as developments in medical, epidemiological and genetic research have outstripped existing structures for ethical supervision. It shows that many problems are now evident and concludes that sequential and piecemeal amendments to present arrangements are inadequate to address these. At their core present systems of ethical review still rely on the integrity and judgment of individual investigators. One possible alternative is to train and license research investigators, make explicit their responsibilities and have ethics committees devote much more of their time to monitoring research activity in order to detect those infringing the rules.  (+info)

(5/247) A seat at the table: membership in federal advisory committees evaluating public policy in genetics.

OBJECTIVES: This study examined who participates in federal government advisory committees regarding public policy in human and medical genetics, what parties they represent, and to what extent the general public is meaningfully represented. METHODS: Analysis focused on 7 federal government documents published from January 1990 to February 1995. Advisors were categorized into 4 groups based on the professional affiliations that were listed in the publications. After a search of several references and data-bases, the study examined whether these individuals also had other affiliations not listed in the government publications. RESULTS: Individuals whose principal affiliations were with academia (n = 32; 44%) or industry (n = 19; 26%) represented nearly three fourths of the sample, followed by government employees (n = 13; 18%) and consumer advocates (n = 8; 11%). At least 16% of the advisors serving on the federal committees, mostly members of academia, had a dual affiliation. CONCLUSIONS: These data indicate that the public has modest representation on key federal advisory committees making policy recommendations regarding human genetics technology and clinical practice and that there is ample room for additional public participation.  (+info)

(6/247) Ethical approval for research involving geographically dispersed subjects: unsuitability of the UK MREC/LREC system and relevance to uncommon genetic disorders.

OBJECTIVES: To assess the process involved in obtaining ethical approval for a single-centre study involving geographically dispersed subjects with an uncommon genetic disorder. DESIGN: Observational data of the application process to 53 local research ethics committees (LRECs) throughout Wales, England and Scotland. The Multicentre Research Ethics Committee (MREC) for Wales had already granted approval. RESULTS: Application to the 53 LRECs required 24,552 sheets of paper and took two months of the researcher's time. The median time taken for approval was 39 days with only seven (13%) of committees responding within the recommended 21 days. In at least nineteen cases (36%) a subcommittee considered the application. Thirty-three committees (62%) accepted the proposal without amendments but, of the remainder, four (8%) requested changes outside of the remit of LRECs. DISCUSSION: Difficulties still exist with the system for obtaining ethical approval for studies involving a single centre but with patients at multiple sites, as is often required for genetic observational research. As such studies differ from true multicentre studies, it may be advantageous to develop a separate and specific process of application to ensure that resources are not unnecessarily expended in the quest for ethical approval.  (+info)

(7/247) Attitudes of the Japanese public and doctors towards use of archived information and samples without informed consent: preliminary findings based on focus group interviews.

BACKGROUND: The purpose of this study is to explore laypersons' attitudes toward the use of archived (existing) materials such as medical records and biological samples and to compare them with the attitudes of physicians who are involved in medical research. METHODS: Three focus group interviews were conducted, in which seven Japanese male members of the general public, seven female members of the general public and seven physicians participated. RESULTS: It was revealed that the lay public expressed diverse attitudes towards the use of archived information and samples without informed consent. Protecting a subject's privacy, maintaining confidentiality, and communicating the outcomes of studies to research subjects were regarded as essential preconditions if researchers were to have access to archived information and samples used for research without the specific informed consent of the subjects who provided the material. Although participating physicians thought that some kind of prior permission from subjects was desirable, they pointed out the difficulties involved in obtaining individual informed consent in each case. CONCLUSIONS: The present preliminary study indicates that the lay public and medical professionals may have different attitudes towards the use of archived information and samples without specific informed consent. This hypothesis, however, is derived from our focus groups interviews, and requires validation through research using a larger sample.  (+info)

(8/247) Protecting subjects' interests in genetics research.

Biomedical researchers often assume that sponsors, subjects, families, and disease-associated advocacy groups contribute to research solely because of altruism. This view fails to capture the diverse interests of many participants in the emerging research enterprise. In the past two decades, patient groups have become increasingly active in the promotion and facilitation of genetics research. Simultaneously, a significant shift of academic biomedical science toward commercialization has occurred, spurred by U.S. federal policy changes. The concurrent rise in both the roles that subjects play and the commercial interests they have presents numerous ethical challenges. We examine the interests of different research participants, finding that these interests are not addressed by current policies and practices. We conclude that all participants should be given a voice in decisions affecting ownership, access to, and use of commercialized products and services, and that researchers and institutions should negotiate issues relating to control of research results and the sharing of benefits before the research is performed.  (+info)



variants


  • It also showed that Neanderthals shared more genetic variants with present-day humans in Eurasia than with present-day humans in sub-Saharan Africa, indicating that gene flow from Neanderthals into the ancestors of non-Africans occurred to an extent that 1-4% of the genomes of people outside Africa are derived from Neanderthals 8 . (nature.com)
  • Lead QIMR researcher Stuart MacGregor said that finding these two genetic variants will help increase the ability to predict those individuals most at risk of developing the potentially deadly disease. (bioscholar.com)
  • MacGregor said unlike the other 18 variants that are already known, the two new genetic variant do not appear to act by simply changing skin pigmentation or mole count. (bioscholar.com)
  • Statistical analysis of the data linked the genetic variants identified with probability of mortality. (medicalxpress.com)
  • The aim of this study was to evaluate associations between common germline genetic variants in the oncogenes BRAF, ERBB2, KRAS, NMI , and PIK3CA , and survival after a diagnosis of epithelial ovarian cancer. (aacrjournals.org)
  • Common genetic variants in the BRAF and KRAS oncogenes may be important in the prediction of survival in patients with invasive epithelial ovarian cancer. (aacrjournals.org)

genetics


  • This article highlights the achievements, both research and organizational of D. Bernard Amos (1923-2003), a distinguished scientist whose work greatly improved our understanding of the genetics of individuality and how this could be exploited. (brighthub.com)
  • Craig Venter is arguably one of the most famous scientists in genetics research. (brighthub.com)
  • Using its unique online research platform, 23andMe, a leading personal genetics company, has found five significant genetic associations for hypothyroidism in the largest known genome-wide association study of hypothyroidism conducted to date. (redorbit.com)

instability


  • Hypothesis/objective: We hypothesize that HGSC and BLBC's are similar with respect to genetic instability and chromosomal aberrations and that these similarities may reflect their common pathogenesis. (aacrjournals.org)

mutations


  • Two types of genetic characteristics might be identified in the course of research, namely genetic mutations and a person's genetic susceptibility . (alzheimer-europe.org)
  • Breast cancer is the most prevalent cancer in women worldwide and mutations in breast cancer susceptible genes, BRCA1 and BRCA2 are the genetic factors conferring highest risk (40-70%) of developing breast cancer. (aacrjournals.org)

genome


  • The Universal Declaration on the Human Genome and Human Rights (UNESCO, 1997) is of relevance to research, treatment or diagnosis affecting an individual's genome and covers areas such as human dignity, the rights of people concerned and the way that such treatment, diagnosis or research is carried. (alzheimer-europe.org)
  • Recognizing that research on the human genome and the resulting applications open up vast prospects for progress in improvising the health of individuals and of humankind as a whole, but emphasizing that such research should fully respect human dignity, freedom and human rights, as well as the prohibition of all forms of discrimination based on genetic characteristics. (alzheimer-europe.org)
  • In its paper, the Rhesus Macaque Genome Sequence and Analysis Consortium, supported in part by the National Human Genome Research Institute (NHGRI), one of the National Institutes of Health (NIH), compared the genome sequences of rhesus macaque ( Macaca mulatta ) with that of human ( Homo sapiens ) and chimp ( Pan troglodytes ), the primate most closely related to humans. (genome.gov)
  • The rhesus genome sequence will also serve to enhance essential research in neuroscience, behavioral biology, reproductive physiology, endocrinology and cardiovascular studies. (genome.gov)
  • The sequencing of the rhesus genome was conducted at the Baylor College of Medicine Human Genome Sequencing Center in Houston, the Genome Sequencing Center at Washington University School of Medicine in St. Louis and the J. Craig Venter Institute in Rockville, Md., which are part of the NHGRI-supported Large-Scale Sequencing Research Network. (genome.gov)
  • In their analysis, scientists from 35 institutions compared this melded assembly to the reference sequence of the human genome, a newer unpublished draft sequence of the chimp genome, the sequence of more than a dozen other more distant species already in the public databases, the human HapMap, and the Human Gene Mutation Database that lists known human mutations that lead to genetic disease. (genome.gov)
  • Just in time for the back-to-school season, the National Human Genome Research Institute (NHGRI) is releasing the free 'Talking Glossary of Genetic Terms' mobile app. (genome.gov)
  • Researchers used genome-wide association studies to check the DNA of 1,186 ALL patients less than 10 years old for single changes in the 3.2 billion "letters" or chemical bases that make up the human genetic code. (stjude.org)

ovarian


  • Thus, it is plausible that genetic polymorphisms can influence survival in ovarian cancer patients by affecting how well the patient responds to treatment. (aacrjournals.org)

genomes


  • however, the data suggest that it contributed 4-6% of its genetic material to the genomes of present-day Melanesians. (nature.com)

genes


  • Research on how our lifestyles affect our genes raises the possibility of giving your future kids a better start in life before they're even born. (theconversation.com)
  • Genetic alterations in these genes have been reported as initiating and early-stage events in tumor development, as well as late-stage events associated with metastatic progression. (aacrjournals.org)
  • Variations in genes involved in normal bone development are associated with an 8- to 15-fold increased risk for osteonecrosis in young patients with acute lymphoblastic leukemia (ALL), according to research led by St. Jude Children's Research Hospital and Children's Oncology Group investigators. (stjude.org)
  • The finding confirms previous research that reported variations in other glutamate receptor genes were associated with an elevated risk of osteonecrosis, with the prior study primarily identifying the risk in patients aged 10 and older. (stjude.org)

23andMe


  • With nearly 90 percent of our 125,000 customers participating in our online research, 23andMe is making crowd-sourced science a reality," stated 23andMe CEO and co-founder Anne Wojcicki. (redorbit.com)
  • These genetic associations contribute significantly to understanding the underlying biology of hypothyroidism, which impacts five percent of the general population," remarked 23andMe Medical Director and study co-author Dr. Uta Francke. (redorbit.com)
  • Upon identification of those novel genetic associations for hypothyroidism also associated with autoimmune diseases, the 23andMe research team looked for any additional single-nucleotide polymorphisms (SNPs) shared with other autoimmune diseases, investigating a list of 107 SNPs that were studied across seven autoimmune diseases. (redorbit.com)
  • This demonstrates our ability to harness the power of the enormous 23andMe genetic database to further medical research. (redorbit.com)
  • This study investigated 3,736 individuals with hypothyroidism as well as 35,546 controls, all drawn from the more than 100,000 23andMe customers who have consented to participate in research efforts. (redorbit.com)
  • These results are published in the open access PLoS ONE journal allowing anyone -including 23andMe customers who contributed to the research-to freely access the study. (redorbit.com)
  • Hence, Helix, a subsidiary of Illumina, will become a competitor for Tier 1 DTC genetic testing companies such as 23andMe and Quest Diagnostics. (medgadget.com)

biology


  • Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, Livermore, California 94551 [R. G. L. (aacrjournals.org)

variation


  • Conclusions: These results provide limited support for an association between genetic variation in the CRP gene and risk of colorectal polyps. (aacrjournals.org)
  • It has been suggested that common, germline genetic variation may influence survival after cancer diagnoses, which might enable the prediction of response to treatment and survival in the clinical setting. (aacrjournals.org)
  • It is well-documented that patients can show different responses to the same treatment, and there is evidence suggesting that germline genetic variation may play a role in chemotherapy resistance ( 5 ). (aacrjournals.org)

Cancer


  • Thank you for sharing this Cancer Research article. (aacrjournals.org)
  • Message Body (Your Name) thought you would be interested in this article in Cancer Research. (aacrjournals.org)

identification


  • The applied markers revealed a very high level of genetic identity between M. alcea and M. excisa and enabled molecular identification of M. alcea var. (degruyter.com)
  • Abstract 1993: Identification of genetic interactors of BRCA2 in mouse embryonic stem cell model. (aacrjournals.org)
  • The identification of genetic polymorphisms that affect survival may aid in the prediction of clinical outcome and response to treatment. (aacrjournals.org)

clinical


  • DTC genetic testing is a service that is offered by companies, retail, and clinical diagnostic laboratories directly to the consumer. (medgadget.com)

Ethics


  • The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University. (georgetown.edu)

survival


  • Cell therapies being developed to treat a range of conditions could be improved by a chemical compound that aids their survival, research suggests. (medicalxpress.com)

researchers


  • Nevertheless, researchers may be interested in a person's genetic status, even if this is limited to his/her susceptibility to develop dementia , as it may be affect the drug they are testing or lead to the development of more targeted and hence more effective drugs (i.e. which will be more effective for some people than others). (alzheimer-europe.org)
  • Researchers checked for genetic variations that were more common in 82 young ALL patients who developed osteonecrosis than in 287 who did not. (stjude.org)

risk


  • A combined study conducted by the Section of General Internal Medicine at the VA Boston Healthcare System and other institutions in 2013 on 521 adults found that respondents who had high phenotypic diabetic risk were aware of genetic testing. (medgadget.com)
  • At the same time, it cautioned against the use of any genetic test for dementia unless such test was known to have a high and proven success rate either in assessing the risk of developing the disease (or not as the case may be) or in detecting the existence of it in a particular individual. (alzheimer-europe.org)
  • This study is the first to focus on genetic risk factors for osteonecrosis in ALL patients less than 10 years old, an age group that accounts for about 75 percent of newly identified ALL patients and about half of ALL patients who develop osteonecrosis. (stjude.org)
  • This plot shows newly identified genetic variations that are associated with an increased risk of osteonecrosis, a treatment-relate complication that affects about 15 percent of acute lymphoblastic leukemia patients. (stjude.org)
  • The goal of this and earlier studies is to identify and understand genetic and other risk factors for osteonecrosis so we can identify patients at high risk for the side effect and develop interventions to prevent the disease," said first author Seth Karol, M.D., a St. Jude Physician Scientist Training Program fellow. (stjude.org)
  • The finding that the genetic variations that affect osteonecrosis risk differ by age was unexpected," Karol said. (stjude.org)

outcome


  • However, whilst research into genetic status or susceptibility is of vital importance for the development of medication for dementia, the outcome of such research could have negative implications for some groups of people. (alzheimer-europe.org)

study


  • The study was led by Australia's Queensland Institute of Medical Research (QIMR). (bioscholar.com)

species


  • New genetic technology could change the DNA of entire species to prevent them from spreading diseases. (theconversation.com)
  • M. moschata was a distinctive species in the section Bismalva , as confirmed by previous genetic research based on ITS and cpDNA sequence analyses. (degruyter.com)

further


  • While we have identified further genetic links to melanoma, prevention is still our best defence," he added. (bioscholar.com)
  • In 2001, Alzheimer Europe produced a position paper on genetic testing in which it recognised the importance of research into genetic factors linked to dementia (which might further our understanding of the cause and development of the disease and possibly contribute to future treatment). (alzheimer-europe.org)

human


  • In addition, the rhesus serves as a valuable model for studying other human infectious diseases and for vaccine research. (genome.gov)

Patients


  • Patients with osteonecrosis were eight to 15 times more likely to have genetic variations located near BMP7 , a gene important for normal bone development. (stjude.org)

Analysis


  • The report, Global Direct-to-consumer Genetic Testing Market 2017-2021 , has been prepared based on an in-depth market analysis with inputs from industry experts. (medgadget.com)

medical


  • To order a DTC genetic test, people need not provide information related to their medical history, pre- and post-test counseling, or other medical components. (medgadget.com)

patient


  • Also, the Government of the US has observed that there is high adoption of DTC genetic testing in the country, which encouraged the FDA to develop strict guidelines to regulate DTC genetic testing to increase patient safety. (medgadget.com)

basis


  • Discovering more about the genetic basis of melanoma may help us to better diagnose and treat melanoma in the future," MacGregor said. (bioscholar.com)

relationships


  • Two categories of DNA markers were used to determine genetic relationships among eight Malva taxa. (degruyter.com)

disease


  • In an extremely limited number of families, Alzheimer's disease is a dominant genetic disorder. (alzheimer-europe.org)

people


  • Hence, there is no direct connection between people and genetic counselors. (medgadget.com)

future


  • DTC genetic testing provides results with the possibility of developing gene-related diseases in the future. (medgadget.com)

advance


  • Our online research platform continues to advance research faster and more cost effectively than traditional research models," added Wojcicki. (redorbit.com)

Resources


  • The DNA used in the sequencing was obtained from a female rhesus macaque at the Southwest National Primate Research Center (NPRC) in San Antonio, which is supported by the National Center for Research Resources, part of NIH. (genome.gov)

make


  • HealthDay)-A widening waistline may make for shrinking numbers of sperm, new research suggests. (medicalxpress.com)

cell


  • He did ground-breaking research in the structure of the cell and its functioning. (brighthub.com)