Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and other organizations … have now identified the cause of the illness, a new disease called CRIA syndrome. The results were published in … Hall Institute in Australia, who made specialized mouse models with similar RIPK1 mutations as seen in CRIA patients. …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring human and nonhuman … gene therapy has grown tremendously since the discovery of CRISPR, the vast majority of work undertaken by scientists … the disease. It can also lead to the creation of "disease models," or laboratory animals that mimic human diseases and …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
… An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 … is a serious public health problem and the implications of COVID19 in individuals with mitochondrial disease or their family members is unknown. Individuals with …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
… on genetic and rare diseases among the millions of online sources is a difficult task for almost everyone. We … … As Internet users quickly discover, an enormous amount of health information is available online. The material … your medical care. … Information on just about any disease can be obtained from the published scientific …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… … A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people from Ghana and Nigeria. Their study … a gene known as APOL1 can significantly increase the risk of developing kidney disease. APOL1 is important for the …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… Steven Benowitz … As a growing number of medical centers and laboratories are sequencing patients' DNA, they continue to uncover millions of DNA differences in genes and the regions between the … researchers know little about their roles in health and disease. Clinicians and researchers hope to use information …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… ancestrally diverse populations. … The National Institutes of Health is establishing the Multi-Omics for Health and Disease Consortium , with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… Raymond MacDougall … The National Institutes of Health has awarded grants to six medical centers around … medical conditions from nearly every state, the District of Columbia and seven foreign countries. The network builds … 15 genes not previously associated with any other human disease. A combination of genomic and clinical analyses …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… with rare and undiagnosed diseases. … The Department of Health and Human Services (HHS) has awarded National Human … Investigator, NHGRI. Credit: Maggie Bartlett, NHGRI. One of the highest honors bestowed by HHS, the Career Achievement … involved uncovering the genetic basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of Wisconsin in 1976. He obtained a Ph.D. degree in oncology … He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane …