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- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
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- Ethical, Legal and Social Implications (ELSI) Research Program7
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Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease Network …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… in Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network (UDN). Each site will receive more than $2.5 … technology company, Illumina. The UDN, based on a pilot program launched in 2008 at the NIH Clinical Center in …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… In the Spring 2008, NIH launched an audacious new research program focusing on patients with mysterious conditions that … been considered as plot points for television dramas. The Undiagnosed Diseases Program (UDP) was conceived by Dr. William Gahl …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… applicants due to the complex nature of the body and the diseases being investigated. However, they do fully review … improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common … and rare diseases. In 2008, the NIH Undiagnosed Diseases Program (UDP) was organized and established by the National …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… Steven Benowitz … The Undiagnosed Diseases Network (UDN), a clinical research initiative of the … application process for the NIH Undiagnosed Diseases Program (UDP), which is now part of the UDN. "Although …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… … Researchers with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a powerful new toolset for … genes. … The UDP is part of the Undiagnosed Diseases Network , which brings together clinical and …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social … Anything" (AMA). … Clinical and research experts from the Undiagnosed Diseases Network (UDN) have joined forces to … clinical director and head of the Undiagnosed Diseases Program (UDP), Cyndi Tifft, M.D., Ph.D., NHGRI's deputy …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… A child has an "undiagnosed condition" when a physician is unable to find a … … Physicians will sometimes say that a child has an "undiagnosed rare condition" or an "undiagnosed genetic … because there usually are so few cases of specific rare diseases, there is often not a doctor who has seen many (or …
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… An adult has an "undiagnosed condition" when a physician is unable to find a … will sometimes have to say that a person has an "undiagnosed rare condition" or an "undiagnosed genetic … because there usually are so few cases of specific rare diseases, there is often not a doctor who has seen many (or …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… at the NIH's Interinstitute Medical Genetics Training Program, which he directed from 1989 to 1994. Dr. Gahl's … rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and … Section investigators are also heavily engaged in the NIH Undiagnosed Diseases Program (UDP), an initiative that Dr. …