Search Results
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 …
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. …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… centers nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total investment planned for the … to improve and accelerate the diagnosis of rare and undiagnosed conditions. The grants will expand the network … was launched to build on the success of the Undiagnosed Diseases Program (UDP) at the NIH Clinical Center. "The UDN …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… in cases that involve patients with prolonged undiagnosed conditions. … site will contribute local medical expertise to the NIH Undiagnosed Diseases Network (UDN). The network includes and is modeled … NIH names new clinical sites in Undiagnosed Diseases Network …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… to several research teams to study the biology of rare and undiagnosed diseases. The new grants, pending available funds, support … to better understand the causes and development of these diseases, and to improve the ability of doctors to diagnose … Center and a Metabolomics Core, as part of the NIH Undiagnosed Diseases Network (UDN). In addition, six new …
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 …
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. …
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 …
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 …