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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… efforts to diagnose and treat individuals with rare and undiagnosed diseases. … The Department of Health and Human Services (HHS) … the program to form a nationwide Undiagnosed Diseases Network (UDN), which includes 12 clinical sites and …
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 … genes. … The UDP is part of the Undiagnosed Diseases Network , which brings together clinical and research experts …
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 … because there usually are so few cases of specific rare diseases, there is often not a doctor who has seen many (or … Without A Name (SWAN) MUMS National Parent-to-Parent Network Harvard Medical School's Family Health Guide National …
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.
… 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. … through fiscal year 2020 to create an Undiagnosed Diseases Network (UDN) of six extramural UDN sites at medical centers …
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.
… been considered as plot points for television dramas. The Undiagnosed Diseases Program (UDP) was conceived by Dr. William Gahl … not in their future. In 2012, the Undiagnosed Diseases Network (UDN)  was established by the NIH Common Fund. …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful … Diagnosing A Disease, DNA Sequence, Genome Sequence, Undiagnosed Diseases Network … The Genetic and Rare Diseases Information Center …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… has given dozens of lectures about helping patients with undiagnosed diseases, work he began with the Undiagnosed Diseases Program … coordinator for the NIH Common Fund's Undiagnosed Diseases Network (UDN), established in 2014. The UDN has created a …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… expected, a new, genome-based technology for demystifying undiagnosed illnesses - particularly rare childhood diseases - is moving from research laboratories into general … … A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… Since then, it has expanded to include several novel and undiagnosed causes of autoinflammatory disease. For more … Identifier: NCT00001373 . … Autoinflammatory diseases are a group of disorders characterized by seemingly … familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease. … A study …