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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. … and dedicated care of numerous patients with rare diseases, make him overwhelmingly worthy of this career … the founding of the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) in 2008. The aim of the …
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 …
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 …
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 …
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. …
Research Funding
The E​MERGE Network develops, disseminates and applies approaches to research that combine biorepositories with electronic medical record systems.​
… Current Network Participants  … Wei-Qi Wei and Chunhua Weng Capture data across the Network Phenotypic data refreshes Retrospective/AnVIL cloud … Ingrid Holm, and Digna Velez-Edwards Develop and maintain network wide protocol Recruitment & barriers Retention …
Staff
Jyoti Dayal is a program officer in the Division of Genomic Medicine, National Human Genome Research Institute (NHGRI)
… in 2015, and her portfolio includes the NIH Common Fund Undiagnosed Diseases Network (UDN) and Electronic Medical Records and Genomics … Jyoti Dayal, genomic medicine, Undiagnosed Diseases Network, Electronic Medical Records and Genomics … Jyoti Dayal, genomic medicine, Undiagnosed Diseases Network, Electronic Medical Records and …