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- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
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.
… M.D., Ph.D., a pioneer in the field of autoinflammatory diseases, and his team discovered CRIA, which has symptoms … unexplained fever, swollen glands and other symptoms or diseases, and then at over a quarter million people from … are routinely used to treat autoinflammatory and chronic diseases such as rheumatoid arthritis, had little effect on …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and … syndrome, alkaptonuria, autosomal recessive polycystic kidney disease, Chediak-Higashi disease, GNE myopathy, and … GNE myopathy, albinism, autosomal recessive polycystic kidney disease, Joubert disease and other ciliopathies, and …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… His primary areas of interest include the development and diseases of melanocytes, the cells responsible for … research interest are the genetics of pigmentation and its diseases and the lysosomal storage disease Niemann-Pick … with an emphasis on understanding and treating human diseases, Dr. Pavan's work is focused on transformative …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… to apply these standards in the context of particular diseases. ClinGen projects center on developing processes and …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… accurate and reliable information on genetic and rare diseases among the millions of online sources is a difficult … Human Genome Research Institute or the Office of Rare Diseases at the National Institutes of Health. We cannot … offers high-quality information on more than 600 diseases and conditions. MEDLINEplus describes itself as "a …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… being applied to research on cancer, mental health, rare diseases, and many other disease areas. … Basic research … "disease models," or laboratory animals that mimic human diseases and can be studied to test new therapies. In the … to use genome editing as a treatment for disease. Many diseases from cancer to asthma have genetic bases. Through …
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.
… contribute local medical expertise to the NIH Undiagnosed Diseases Network (UDN). The network includes and is modeled … Ph.D., director of the National Institute of Neurological Diseases and Stroke, co-chair the UDN working group. The Undiagnosed Diseases Network spans the U.S. map, with locations for the …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… diagnose and treat individuals with rare and undiagnosed diseases. … The Department of Health and Human Services (HHS) … and dedicated care of numerous patients with rare diseases, make him overwhelmingly worthy of this career … of the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) in 2008. The aim of the UDP is both …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… statistical model that can predict the risk for developing diseases by combining information from family members about … making it one of the most common and costly chronic diseases to treat. T2D is known as a complex disease because … relying on models that can only be used for complex diseases such as hypertension, high cholesterol and heart …