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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
- Genome Technology Program1
- 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
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. … A major focus of … and better understand pathways involved in human genetic diseases and normal development. Model systems, including …
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 …
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 …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic … the genetic factors that contribute to ADHD, with the hope of improving treatment for this condition in the future. … …
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 …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics and Molecular Biology Branch uses state-of-the-art genetic and genomic technologies to study the genomes of … improved diagnosis, treatments and prevention of human diseases. Using the excellent resources of NHGRI intramural …