• This is the first study to evaluate the association between hepatitis C and the most frequently inherited monogenic liver diseases (hereditary hemochromatosis, alpha-1 antitrypsin deficiency, Gilbert's syndrome, and Wilson's disease) and their causative mutations. (wjgnet.com)
  • Its abnormalities manifest themselves in various diseases, including sclerosing bone disorder (SBD). (nature.com)
  • Sclerosing bone disorder (SBD) is a heterogeneous group of monogenic diseases characterized by increased bone density. (nature.com)
  • This task can be used to detect early vision symptoms in neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease and rare genetic diseases affecting the retina and to test the efficacy of small molecules or gene therapy, with high predictive validity. (tigem.it)
  • A similar approach to diagnosing individuals with rare diseases is being used in the NHS for acutely unwell children with a likely monogenic disorder, which can provide a genetic diagnosis for babies and children in or facing critical care within just ten days. (ed.ac.uk)
  • Lung stem cells can also be exploited to treat monogenic diseases, by using CRISPR to correct the genetic mutation then transplanting them back into the patient. (stanford.edu)
  • Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person's life. (genome.gov)
  • With its extensive experience and has made a substantial contribution to the diagnosis, management and prevention of many genetic disorders, and it is recognized as a National and European reference centre for several genetic diseases with respect to applied research and diagnostics. (ithanet.eu)
  • It was also was the first centre in Greece to apply preimplantation genetic diagnosis (PGD), for monogenic diseases. (ithanet.eu)
  • To date, most gene therapies have targeted monogenic recessive retinal diseases and employed viral vectors to transfer a 'normal ' copy of the mutated gene to the affected cell. (berkeley.edu)
  • Systemic autoinflammatory diseases (sAIDs) are a heterogeneous group of disorders, having monogenic inherited forms with overlapping clinical manifestations. (istinye.edu.tr)
  • eng] Neurodevelopmental disorders (NDDs) are a group of chronic diseases in which the development of the central nervous system is impaired, resulting in disability at the neuropsychiatric, motor and/or intellectual level. (ub.edu)
  • The polycystic kidney diseases are a group of genetically heterogeneous disorders and a leading cause of kidney failure. (basicmedicalkey.com)
  • Lysosomal storage diseases (LSDs) are a group of 40-50 rare monogenic disorders that result in disrupted lysosomal function and subsequent lysosomal pathology. (pediatricendoreviews.com)
  • Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease. (ox.ac.uk)
  • Recent studies have reported an increasing spectrum of human monogenic diseases that can present with IBD-like intestinal inflammation. (ox.ac.uk)
  • Understanding of prototypic monogenic 'orphan' diseases cannot only provide treatment options for the affected patients but also inform on immunological mechanisms and complement the functional understanding of the pathogenesis of IBD. (ox.ac.uk)
  • How can our knowledge of the immune system be applied to develop innovative therapies, including the identification of novel antigens for immune therapies and gene repair strategies in monogenic immune diseases? (mdc-berlin.de)
  • Syncona Ltd, the UK investment group, has launched its third gene therapy company directed against retinal diseases, including an inherited monogenic disorder that leads to progressive vision loss in males. (mednous.com)
  • His group discovered the first monogenic mutations involved in autism. (wikipedia.org)
  • Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes). (genome.gov)
  • Sickle cell disease (SCD), the most frequent monogenic disease worldwide, is caused by mutations in the β-globin gene. (haematologica.org)
  • Inherited ichthyoses represent a large group of monogenic Mendelian disorders of cornification due to mutations in genes involved in skin barrier function [ 1 ]. (biomedcentral.com)
  • Monogenic diabetes is commonly caused by single-gene mutations. (pfmjournal.org)
  • Monogenic diabetes is commonly caused by single-gene mutations with more than 50 causative genes identified. (pfmjournal.org)
  • Notre étude a démontré que les mutations du gène HFE sont fréquentes en Égypte chez les porteurs d'une -thalassémie par rapport aux sujets témoins. (who.int)
  • Treatment options in this heterogeneous group of disorders range from anti-inflammatory and immunosuppressive therapy to blockade of tumour necrosis factor α and IL-1β, surgery, haematopoietic stem cell transplantation or gene therapy. (ox.ac.uk)
  • Defining the biology underlying these extreme monogenic phenotypes reveals shared mechanisms underlying common polygenic allergic disease and identifies potential drug targets. (jci.org)
  • We will then utilize existing and develop novel technologies to characterize and investigate the epithelial phenotypes of CODE disorders using polarized cells, patient-derived enteroids and disease-specific zebrafish models. (grantome.com)
  • Diagnosis of monogenic diabetes has improved from being based on clinical phenotypes to molecular genetics, with significant advancement of genome sequencing skills. (pfmjournal.org)
  • This review will discuss the distinct etiology and subgroups that contribute to predicting and treating clinical phenotypes associated with monogenic diabetes. (pfmjournal.org)
  • This review will explain how successfully precision medicine is implemented in monogenic diabetes by examining the distinct etiology and subgroups that contribute to predicting and treating clinical phenotypes associated with the disease. (pfmjournal.org)
  • Variants of type 2 diabetes include monogenic forms such as maturity-onset diabetes of youth (MODY) and ketosis-prone forms such as Flatbush diabetes. (ccjm.org)
  • 11 Although the American Diabetes Association's standards of care consider monogenic diabetes a separate entity, 11 I believe this distinction is premature, as monogenic diabetes does not show up in the clinic as an obvious distinct entity, but rather as type 2. (ccjm.org)
  • He has been instrumental in the discovery of multiple gene-disease associations for monogenic diabetes and hyperinsulinism. (exeter.ac.uk)
  • He has been working in the monogenic diabetes group in the university medical school since 2015. (exeter.ac.uk)
  • Neonatal diabetes mellitus (NDM) and maturity-onset diabetes of the young (MODY) account for a major proportion of monogenic diabetes, while syndromic diabetes constitutes a smaller proportion. (pfmjournal.org)
  • The immune genetics of the aetiology and pathogenesis of autoimmune (type 1) diabetes and associated organs-specific autoimmune disorders including celiac disease and narcolepsy are not fully understood. (lu.se)
  • The BB rat is investigated to clarify monogenic type 1 diabetes due to a frameshift mutation in the Gimap5 gene, which is coding for an anti-apoptopic protein. (lu.se)
  • Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. (lu.se)
  • Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of monogenic disorders in which the main clinical feature is progressive lower limb spasticity. (hsp-info.de)
  • 2009], we extensively reviewed the EDs belonging to group A, which enabled an update of the clinical classification and the inclusion of molecular data regarding the causative genes and their products. (docksci.com)
  • We will characterize their clinical and pathophysiological features of these disorders and develop a clinical database and biorepository of disease-specific cells, tissues, and other primary patient materials. (grantome.com)
  • We anticipate that these efforts will expand our understanding of CODE disorders and identify novel approaches for improving clinical symptoms of affected children. (grantome.com)
  • The MDC's participating research groups bring a broad range of technological expertise to the initiative - ranging from biochemical assays, structure and function analysis, and gene editing to the development of preclinical mouse models, GMP production, and even clinical trials. (mdc-berlin.de)
  • Most of them are monogenic disorders, but the spectrum of PIDs is constantly expanding to identify new immunodeficiency syndromes through the generation of sequencing technologies and better clinical knowledge. (cinvestav.mx)
  • Precision psychiatry aims to stratify people with a given disorder according to different clinical outcomes and tailor treatment to their individual needs. (cdc.gov)
  • At present, interindividual differences in outcomes of psychotic disorders are difficult to predict on the basis of clinical assessment alone. (cdc.gov)
  • Here, we review recent progress in the application of precision psychiatry to psychotic disorders and consider the challenges associated with implementing this approach in clinical practice. (cdc.gov)
  • health systems and community clinical linkages - and chal enged the group to consider all four arenas during their deliberations today. (cdc.gov)
  • His substantial risk of contracting lung cancer provides the key motivation for him to join a support group of persons at genetically high risk for serious complications of smoking, and he successfully kicks the habit. (cdc.gov)
  • One hundred patients were randomly assigned to receive a family history report (FH group, 50 patients) or in combination with a WGS report (FH + WGS group, 50 patients), which included monogenic disease risk (MDR) results (associated with Mendelian disorders), carrier variants, pharmacogenomic traits, and polygenic risk estimates for common disease traits. (cdc.gov)
  • Some of these disorders are considered syndromic. (ub.edu)
  • Link to paper Abstract: Dystonias are a group of chronic movement-disabling disorders for which highly effective oral medications or disease-modifying therapies are lacking. (lrnlab.org)
  • Abstract Pubmed Link DYT1 dystonia is a debilitating movement disorder characterized by repetitive, unintentional movements and postures. (lrnlab.org)
  • ABSTRACT Thalassaemia is the most common monogenic autosomal hereditary disease worldwide. (who.int)
  • The disorder has been linked to mutation of the TOR1A/DYT1 gene encoding torsinA. (lrnlab.org)
  • APECED is due to a monogenic mutation of AIRE (autoimmune regulator) which codes for a transcription factor. (lu.se)
  • Therapies for these disorders (eg, intravenous immunoglobulin [IVIG], bone marrow transplantation, gene therapy) are very costly and require highly advanced facilities. (medscape.com)
  • I am interested in inherited monogenic disorders and specialize in stem cell research and high-throughput data analysis. (heikobrennenstuhl.de)
  • The Behavioral Facility has worked to identify behavioral alterations in animal models of lysosomal storage disorders, in particular in those of mucopolysaccharidoses. (tigem.it)
  • MPS-IIIA represents one of the most common forms of lysosomal storage disorders (LSDs) and to date there is no cure. (pediatricendoreviews.com)
  • Periodic Fever Syndromes (PFS) (also known as monogenic autoinflammatory syndromes) is a collective group of disorders highlighted by recurrent fever and inflammatory episodes. (preventiongenetics.com)
  • These oral clefts are typically caused by chromosome abnormalities and defined monogenic syndromes. (msdmanuals.com)
  • Results: The enrollment of patients in the hydroxychloroquine group was closed on June 5, 2020, after an interim analysis determined that there was a lack of efficacy. (openscience.si)
  • Usher syndrome (USH) is an autosomal recessive disorder, characterized by bilateral hearing loss and retinitis pigmentosa (RP). (molvis.org)
  • Primary atopic disorders are a group of inborn errors of immunity that skew the immune system toward severe allergic disease. (jci.org)
  • PFS may mirror other immune dysfunction disorders such as cyclic neutropenia and SCID due to recurrent fever bouts, but unlike those disorders, bouts are not a result of recurrent infections (Caso et al. (preventiongenetics.com)
  • What is the mechanistic link between infections, immune reactions and their microenvironment, inflammatory responses and central nervous system disorders, including neurodegenerative disease, and how can we use this information to better understand and treat these disorders? (mdc-berlin.de)
  • Primary immunodeficiencies (PID) are a diverse group of more than 300 genetic disorders that fundamentally affect the immune system's development and functionality. (cinvestav.mx)
  • The 40 monogenic defects with IBD-like pathology selected in this review can be grouped into defects in intestinal epithelial barrier and stress response, immunodeficiencies affecting granulocyte and phagocyte activity, hyper- and autoinflammatory disorders as well as defects with disturbed T and B lymphocyte selection and activation. (ox.ac.uk)
  • In an article published on www.mednous.com on 21 August 2023 entitled SSI Strategy buys NDA Group, the leadership of the new group has been corrected to show that Douglas Locke, Chief Executive Officer of SSI Strategy, has been named CEO of the combined group. (mednous.com)
  • The research team also found that the chances of success in getting a diagnosis was lower in families of non-European ancestry, reinforcing the imperative to increase research participation for under-represented groups. (ed.ac.uk)
  • When Jessica Fisher was given a diagnosis for her son Mungo's rare genetic disorder, she initially felt it had all come too late. (ed.ac.uk)
  • It is amongst the most active groups in Europe for the hemoglobinopathies and cystic fibrosis, mainly focused on applied research for improved diagnostic applications, including prenatal diagnosis and preimplantation genetic diagnosis when relevant. (ithanet.eu)
  • These couples can proceed with a choice of invasive prenatal diagnosis tests of the fetus (chorionic villous sampling and amniocentesis), or non-invasive prenatal testing of free fetal DNA circulation in the maternal blood which has emerged within the last few years and is currently available for fetal sexing for X Linked disorders. (pediatricendoreviews.com)
  • Despite the advances in prenatal diagnosis, couples found to have a fetus affected with a genetic disorder may need to face the dilemma of pregnancy termination. (pediatricendoreviews.com)
  • He works on genes, changes in synapse properties and changes in circadian rhythm in autism-spectrum disorders. (wikipedia.org)
  • Individuals affected by autism spectrum disorders (ASDs) exhibit affective symptoms such as enhanced anxiety, which has been seen in rodent models of ASDs as well. (ncbs.res.in)
  • Rarely, a clear pattern of inherited obesity within a family is caused by a specific variant of a single gene (monogenic obesity). (cdc.gov)
  • Indeed, collaborative efforts between MCCB researchers and other groups on campus are focused on correction of monogenic disorders, such as Huntington's Disease and Chronic Granulomatous Disease, as well as the eradication of HIV from latent cellular reservoirs. (umassmed.edu)
  • 6 weeks, is the most common childhood chronic rheumatic disorder ( 1 ). (cdc.gov)
  • The first gene therapy to treat severe haemophilia A was approved by the US Food and Drug Administration on 30 June, adding a novel treatment to the existing group of drugs for the bleeding disorder. (mednous.com)
  • We identified the genetic origin of the disorder in the 7 tested families, which happened to be different variants in different genes for each of them. (ub.edu)
  • B-cell disorders are divided into defects of B-cell development/immunoglobulin production ( immunodeficiencies ) and excessive/uncontrolled proliferation ( lymphomas , leukemias ). (medscape.com)
  • Defects occurring at the CLP stage or those affecting processes common to B- and T-cell development result in combined immunodeficiency involving B, T, and NK cells (see Combined B-Cell and T-Cell Disorders ). (medscape.com)
  • News - The exclusive partnership will also be extended to include the analysis of phenotypic-genotypic correlations and metabolic profiling of some common maternal/ fetal cardiac defects known to be related to monogenic disorders. (lgcgroup.com)
  • Overview of Congenital Craniofacial Abnormalities Congenital craniofacial abnormalities are a group of defects caused by abnormal growth and/or development of the head and facial soft-tissue structures and/or bones. (msdmanuals.com)
  • INTRODUCTION Monogenic genetic disorders constitute a very large group of rare conditions, many of which are characterized by the presence of congenital malformation. (docksci.com)
  • The goals of this grant application are to develop the PediCODE Consortium and Biorepository and to identify the monogenic causes of COngenital Diarrhea and Enteropathy (CODE). (grantome.com)
  • More than 13,500 families from 24 regional genetics services across the UK and Ireland were recruited to the Deciphering Developmental Disorders (DDD) study, a collaboration between the NHS and the Wellcome Sanger Institute funded by Wellcome and the Department of Health and Social Care, and supported by the National Institute for Health and Care Research. (ed.ac.uk)
  • All the families had children with a severe developmental disorder, which was undiagnosed despite prior testing through their national health service and likely to be caused by a single genetic change. (ed.ac.uk)
  • Through funding from the Chief Scientist Office, the Genomic Data Analysis Centre - a University of Edinburgh facility located at the Institute of Genetics and Cancer, supported by the MRC Human Genetics Unit - is participating in this NHS Scotland programme to conduct trio whole exome sequencing for families with a child with a developmental disorder. (ed.ac.uk)
  • Mungo's condition, called Turnpenny-Fry syndrome, was discovered in 2015 through the Deciphering Developmental Disorders study, in which he was a participant. (ed.ac.uk)
  • Combined T- and B-cell deficiencies manifest with signs and symptoms related to both B- and T-cell deficiency (see Combined B-Cell and T-Cell Disorders ). (medscape.com)
  • During his PhD, Jan has examined various monogenic disorders associated with androgen excess and deficiency. (birmingham.ac.uk)
  • Depending on the protein or enzyme deficiency associated with each disease, LSDs affect an array of organ systems and elicit a complex set of secondary disease mechanisms that make many of these disorders difficult to fully treat. (pediatricendoreviews.com)
  • Our research aims at investigating the molecular basis of autism, a brain disorder of proven neurodevelopmental origin whose cellular and molecular causes remain largely unknown. (unitn.it)
  • During the past few years, much progress has been achieved in describing the molecular basis of these disorders and in establishing genotype-phenotype correlations [ 8 ]. (biomedcentral.com)
  • Even though the majority of them are monogenic, many of them remain with an unknown molecular basis. (ub.edu)
  • Finally, we will seek to characterize functional alterations in a minimum of 4 novel disorders from our cohort of CODE patients. (grantome.com)
  • Psychotic disorders as a framework for precision psychiatry. (cdc.gov)
  • Understanding epidemiology of rare skin disorders such as ichthyosis is one of the main objectives advocated in the Plan Maladies Rares defined by the French Health ministry [ 17 ]. (biomedcentral.com)
  • Mucopolysaccharidoses are a group of monogenic, rare, incurable disorders affecting children. (tigem.it)
  • Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. (biomedcentral.com)
  • Monogenic genetic disorders constitute a very large group of rare conditions, each of which is defined by a characteristic combination of phenotypic features. (docksci.com)
  • The CODE disorders are rare monogenic disorders that are under-researched and associated with an enormous management costs and adverse life-long outcomes. (grantome.com)
  • This notwithstanding, the mechanisms underlying the relationship between the 2 disorders remain to be elucidated. (medscape.com)
  • This core facility provides UMass Chan Medical School research groups with access to the latest technologies available for introducing targeted genome alterations in human cells and various model organisms. (umassmed.edu)
  • In 2011, Jan was successful in obtaining an MRC-funded Research Training Fellowship to do his PhD in the same group in Birmingham. (birmingham.ac.uk)
  • this research to study the reproductive variance (ANOVA) used for compari- behaviour of mothers of children with sons among 3 or more groups. (who.int)
  • The autosomal dominant form of polycystic kidney disease (ADPKD) is the most common life-threatening monogenic disease, affecting 12 million people worldwide. (basicmedicalkey.com)
  • The conditions in this group have a range of signs and symptoms that involve fragile blood vessels . (medlineplus.gov)
  • Secondary dystonia includes a heterogenous group of etiologies including inherited (without and with brain degeneration) and acquired neurologic disorders. (medscape.com)
  • Increased inhibitory influences of the GPI on the thalamocortical circuitry result in hypokinetic disorders, such as Parkinson disease, whereas decreased GPI activity results in hyperkinetic disorders, such as hemiballismus. (medscape.com)
  • Carrier screening programs for genetic disorders that are prevalent in various populations identify couples and pregnancies at risk of having an affected child. (pediatricendoreviews.com)
  • We use a multidisciplinary approach, ranging from neuroanatomical to behavioral studies, to identify autistic-like deficits in monogenic mouse models. (unitn.it)
  • Himsworth speculated that the latter group must be missing a factor that sensitizes people to insulin. (ccjm.org)
  • This group of conditions affects approximately 100,000 people in the United States. (berkeley.edu)
  • in the gene occur in people with no history of the disorder in their family. (medlineplus.gov)
  • These differences can be seen in groups of people with the same racial or ethnic background and even within families. (cdc.gov)
  • Syncona Ltd, an evergreen investment group, has confirmed its target for growth over the next 10 years while reporting a decline in the value of its net assets for the 12 months ended 31 March. (mednous.com)
  • To achieve these goals, we have assembled a multidisciplinary group of Physician-Scientists that have interest and experience in cell biology and genetic disorders that result in diarrhea. (grantome.com)
  • Since neurodegeneration is the most relevant pathological feature in MPS-IIIA patients, the treatment of the central nervous system (CNS) lesions represents the goal of any effective therapy for this devastating disorder. (pediatricendoreviews.com)
  • We believe that this project may have important findings in studying this group of patients, and may also have therapeutic implications. (grantome.com)
  • In a case-control design, we compared the proportion of subjects with no-mismatch, the volume of penumbra salvaged, as well as the final infarct size in a group of patients with migraine and a group of patients with no history of migraine. (medscape.com)