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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
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 … M. Anderson, M.D., Ph.D., director of NIH's Division of Program Coordination, Planning, and Strategic Initiatives …
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) … National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) in 2008. The aim of the UDP is both simple yet …
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 … said UDN co-coordinator Anastasia Wise, Ph.D., a program director at the National Human Genome Research …
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 after an NIH pilot program that has enrolled people with intractable medical …
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 … 2016 HudsonAlpha Institute for Biotechnology - The CSER Program: Tiana's Story The PEARLS Project: Positive Exposure …
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 … and genetic diseases. The NHGRI Extramural Research Program supports grants for research and training and career …
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 condition, …
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 …
Professional Development Programs
The National Institutes of Health (NIH) seeks qualified physicians, physician assistants, nurse practitioners and genetic counselors interested in acquiring credentials and experience to lead genomic medicine research and implementation programs at the NIH, major medical centers and other organizations.
… The ACMG/NIH Genomic Program Management Fellowship has been a deeply gratifying, … it allows for a deep dive into project, portfolio and program management at the forefront of genomics. The keystone of this program is sage mentorship from faculty and collegial …