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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
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… A child has an "undiagnosed condition" when a physician is unable to find a … … Physicians will sometimes say that a child 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 …
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 … 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 …
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
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 …
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 …
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
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. … But when he gave the honorary Samuel …
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 …
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 …