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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- 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
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Jeannine Mjoseth … Behçet's disease is a disease that destroys blood vessels through … genital ulcers, as well as vision destroying inflammation of the eyes. Research suggests the disease develops due to … Articles … Research provides more insight into genetic basis of Behçet's Disease … NHGRI researchers investigated …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale … disease phenotypes. … The CCDG initiative explores a range of diseases with the goal of: Undertaking variant discovery … designs to better understand the general principles of genomic architecture underlying common, complex inherited …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… with fewer than 200,000 people diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent … disorder. It is difficult to overstate the relief that genomic testing has brought to many of these patients and … sometimes shrink the path for establishing the genetic basis for a rare condition from decades (and unfortunately …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… Sheena Faherty, Ph.D. … The National Institutes of Health will fund a set of genome sequencing and analysis … centers whose research will focus on understanding the genomic bases of common and rare human diseases. … The … part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome sequencing to …
News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… in a global research endeavor to understand the genetic basis of disease in all populations. But this can only be done by …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… four years ago, it was charged with the ambitious task of identifying the genomic underpinnings of as many Mendelian conditions as … Centers for Mendelian Genomics, Bamshad MJ. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… … Over the past year, the Intramural Research Program of the National Human Genome Research Institute (NHGRI) has been reorganized. As part of this reorganization, the Center for Research on Genomics … newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … As described by NHGRI …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… Genome Research Institute (NHGRI) and the former Office of Rare Diseases Research (now the Division of Rare Diseases Research Innovation at the National Center … and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that … Undiagnosed Diseases Network to Target Rare Disorders with Genomic Medicine GenomeWeb 2013 November 9, 2013: Young …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and social determinants of complex diseases. … Investigators focus, in particular, on … genetic and genomic strategies to elucidate the molecular basis, pathophysiology and treatment of human inflammatory …