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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
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- Impact of Genomic Variation on Function (IGVF) Consortium1
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- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… Steven Benowitz … Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and … pathway that plays a major role in several common diseases. Together, their findings may provide new clues to …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… cross-breeding mice to carry human mutations causing each of the two diseases. They published their findings in the December 2017 … Between Diseases … Related Content … Mouse model for rare genetic disease advances understanding of Parkinson's … NHGRI …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… 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 interaction … in DNA that correlate with autoimmune and inflammatory diseases. They found novel DNA changes that are correlated …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their … used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … … of physical traits of people with many different inherited diseases around the world, including Asia, the Indian …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… Ph.D. … Media Availability A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most … National Institutes of Diabetes and Digestive and Kidney Diseases; the National Institute on Aging; the National …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… are underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a global effort to raise awareness of rare diseases. Several NHGRI staff members - Anastasia L. Wise, … In 2011, Dr. Gahl and his UDP colleagues identified the genetic difference in the NT5E gene that causes a rare and …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… Steven Benowitz … Teams of scientists will use support from the National Institutes of Health to conduct research into the genetic underpinnings of Alzheimer's disease, analyzing how … the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… Raymond MacDougall … A team from the National Institutes of Health has surmounted a major … obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… assistance from a high tech robot, National Institutes of Health researchers have identified and tested a molecule … could be widely available to treat people with these diseases. However, there's a long distance between … technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… Sheena Faherty, Ph.D. … On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social … so she needed a feeding tube. We were stumped, but put her genetic information on a website, along with a brief …