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- Ethical, Legal and Social Implications (ELSI) Research Program1
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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. … The Department of Health and Human Services (HHS) … 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 … Center and a Metabolomics Core, as part of the NIH Undiagnosed Diseases Network (UDN). In addition, six new …
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. … Each clinical site will contribute local medical expertise to the NIH Undiagnosed Diseases Network (UDN). The network includes and is modeled …
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. … to designate $145M through fiscal year 2020 to create an Undiagnosed Diseases Network (UDN) of six extramural UDN …
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 … yet received a diagnosis, they could apply to the NIH's Undiagnosed Disease Network . This national network of …
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 …
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 … Diagnosing A Disease, DNA Sequence, Genome Sequence, Undiagnosed Diseases Network … The Genetic and Rare Diseases …
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 …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… NIH’s National Human Genome Research Institute (NHGRI) and Undiagnosed Diseases Program (UDP) identified three children with the … cellular recycling … Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… that is part of a global effort to raise awareness of rare diseases. Several NHGRI staff members - Anastasia L. Wise, … Ph.D., NHGRI clinical director and director of the NIH Undiagnosed Diseases Program (UDP), offered other examples of … and Chad Smith, father of a patient who is part of the Undiagnosed Diseases Network, will answer questions about …