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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
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale … and protective variants contributing to multiple common disease phenotypes. … The CCDG initiative explores a range of … stroke), neuropsychiatric diseases (autism, Alzheimer's disease, epilepsy), and immune-mediated diseases (irritable …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in … progressive destruction of the nervous system. … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly … test that measures the level of Hex-A in a person's blood. Carriers have less Hex-A in their body fluid and …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … … cell disease, abnormal hemoglobin molecules - hemoglobin S - stick to one another and form long, rod-like structures. … parents. When both parents have the genetic defect, there's a 25 percent chance that each child will be born with …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… Sheena Faherty, Ph.D. … On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness … (AMA). Our AMA hosts were William Gahl, M.D., Ph.D., NHGRI's clinical director and head of the Undiagnosed Diseases Program (UDP), Cyndi Tifft, M.D., Ph.D., NHGRI's deputy clinical director and head of the pediatric portion …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Jeannine Mjoseth … Behçet's disease is a disease that destroys blood vessels through … … NHGRI researchers from Dan Kastner, M.D. Ph.D.'s group in the Inflammatory Disease Section of the Division …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the … to kidney failure. … Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common forms of polycystic … child of either gender. In this form, one out of a person's two copies of the gene must be altered in order for the …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… Children affected by mitochondrial disease have impaired oxidative phosphorylation (OXPHOS). …  … The Metabolism, Infection and Immunity (MINI) Section’s mission is to understand how infection causes … with mitochondrial disease to document the vaccine’s benefits to this community. … Peter McGuire is an …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic … of Funding Opportunity (NOFO). The intramural Undiagnosed Disease Program, housed within the NIH Clinical Center and …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. … co-author and NHGRI scientific director and head of NHGRI's Inflammatory Disease Section. "We have achieved the … that are important for the regulation of the immune system's responses." Cells use biological pathways to send and …