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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
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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 …
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 …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… is principal investigator at Baylor College of Medicine's UDN DNA Sequencing Core. The Baylor College of Medicine … principal investigator at the Medical College of Wisconsin's UDN DNA Sequencing Core. The facility will provide … variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… said James M. Anderson, M.D., Ph.D., director of NIH's Division of Program Coordination, Planning, and Strategic … provide patients and their families access to the nation's leading diagnostic teams and sophisticated diagnostic … York City Harvard Teaching Hospitals (Brigham and Women's Hospital, Boston Children's Hospital, Massachusetts General …