Search Results
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… 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 pathogen exposure, along with a mix of genetic and environmental risk factors, but their …
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 …
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 … and protective variants contributing to multiple common disease phenotypes. … designs to better understand the general principles of genomic architecture underlying common, complex inherited …
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.
… 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. … (CCDG), which will use genome sequencing to explore the genomic contributions to common diseases such as heart …
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 … populations contain the oldest and most diverse set of human genes. However, most studies of the human genome … are missed to advance not only the understanding of disease within those populations, but also for humans across …
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 possible. … in a single gene. So far, researchers have identified the genomic causes for only about half. Individually, a rare … Centers for Mendelian Genomics, Bamshad MJ. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… Human Genome Research Institute (NHGRI) and the Division of Rare Diseases Research Innovation (DRDRI) at the National … Sciences) - two agencies at the National Institutes of Health (NIH). GARD provides immediate, virtually … and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and social determinants of complex diseases. … scleroderma and podoconiosis). MCIDGB researchers analyze genomic data to document and interpret the non-random … genetic and genomic strategies to elucidate the molecular basis, pathophysiology and treatment of human inflammatory …
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). …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … They are underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a … Rare disease research may provide insights into common diseases …