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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
The Genetics/Genomics Competency Center (G2C2) resource has been expanded to include a new collection of resources for physicians.
… John Daniels … The Genetics/Genomics Competency Center (G2C2) - www.g-2-c-2.org - is a free, online collection of materials for use in the classroom and for self-directed learning in … Identifying microbial contributors to human health and disease using genomic information. Physicians' societies, …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes … In most cases the other copy of the gene makes up for the one that does not work properly and we are healthy. A … able to identify genetic variations that contribute to common diseases including Parkinson's disease. … In most …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease is a rare condition that is characterized by … women of middle age. However, although it is 20 times more common in women, 16 percent of the reported cases are males … epilepsy, confusion and dementia. The pain can last for hours, can be paroxysmal (occurring only at certain …
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.
… collaborators are studying the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by … Sidransky's lab, analyzed more than 200 individual mice for as long as two years. Also contributing to the study were …
Event
On December 12-13, NHGRI and NIAID will sponsor the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… the meeting are to: Define currently available approaches for using host genomic information in the diagnosis, … will co-sponsor the 16th Genomic Medicine meeting, Host Genomics and Infectious Disease: Opportunities for Implementing Genomic Medicine , in …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… Eric Green, M.D., Ph.D. … As is likely the case for many of your organizations, NHGRI and NIH are starting to … the strong participation of universities and research centers throughout the United States, the United Kingdom, … Genomics Research NIH researchers uncover genes linked to common recurrent fever in children How the genetic code was …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, … disease are helping to increase the quality of life for people who have Crohn's disease. … The symptoms of … and a series of tests. Blood tests may be done to: Check for anemia. Check for a high white blood cell count and …
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.
… pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an … metabolic pathway that plays a major role in several common diseases. Together, their findings may provide new … Genome Research Institute is one of the 27 institutes and centers at the National Institutes of Health. The NHGRI …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… our strategic planning events, please be sure to sign up for email updates  and monitor the 'Genomics 2020' calendar … Diseases Network (UDN)  was established by the NIH Common Fund. Growing out of the revolutionary work of the … Jean McEwen Funding Opportunities Large Animal Testing Centers for Evaluation of Somatic Cell Genome Editing Tools …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Huntington's disease is an inherited neurological illness causing … will cause them to develop the disease. There is no cure for this fatal disease. A single abnormal gene produces HD. … isolated the HD gene on chromosome 4. The gene codes for production of a protein called "huntingtin," whose …