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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
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 … Metabolomics Core, as part of the NIH Undiagnosed Diseases Network (UDN). In addition, six new awards fund research to …
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. … Did you know that there are truly rare people … University that used DNA sequencing to help children with undiagnosed disorders. It took over a year, but they finally … they could apply to the NIH's Undiagnosed Disease Network . This national network of medical and research …
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
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 …
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 …
Staff
Heather Colley is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… Program, NHGRI GWAS Catalog, and the NIH Common Fund Undiagnosed Diseases Network. Her research interests include increasing the …