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15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… is ending diagnostic odysseys for patients with rare diseases. … of these patient groups are accelerating research on rare diseases by recruiting patients with the same condition to … University that used DNA sequencing to help children with undiagnosed disorders. It took over a year, but they finally …
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 … for finding potential disease-causing gene variants in undiagnosed patients. The work is automatically accomplished … The UDP is part of the Undiagnosed Diseases Network , which brings together clinical …
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 … Physicians 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 …
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. … Undiagnosed Disease Program Celebrates 10th Anniversary …
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 have studied rare disorders and discovered new diseases, employing the disciplines of biochemistry, cell … Section investigators are also heavily engaged in the NIH Undiagnosed Diseases Program (UDP), an initiative that Dr. …
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 information about genetic and rare diseases … The Genetic and Rare Diseases Information Center (GARD)  was created in 2002 by … Genome Research Institute (NHGRI) and the Division of Rare Diseases Research Innovation (DRDRI) at the National Center …
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 … Autoinflammatory diseases are a group of disorders characterized by seemingly … T-cells that are characteristic of autoimmune diseases. Some autoinflammatory diseases have been shown to …
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 … that clinicians can use to diagnose and, hopefully, treat diseases in patients that they couldn't treat before," Dr. …
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 in 2008. … is a working group coordinator for the NIH Common Fund's Undiagnosed Diseases Network (UDN), established in 2014. The …