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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
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 the branch's research lies …
The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
… The beginning of spring brings some good budgetary news for NIH and NHGRI. … are critical to maintaining the trust of the public in genomics research. Did you know that the top contributors of … significance of their results.   …  In 2003, the Human Genome Project ended with the generation of an …
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 … research into the genetic underpinnings of Alzheimer's disease, analyzing how genome sequences-the order of chemical … the National Institute on Aging (NIA) and the National Human Genome Research Institute (NHGRI), both part of NIH. …
News Release
NHGRI celebrated the 15th anniversary of the Human Genome Project with a "15 for 15" Celebration that commemorates the genomic advances since 2003.
… Palmer … On April 25th - National DNA Day - the National Human Genome Research Institute (NHGRI) will celebrate the 15th anniversary of the completion of the Human Genome Project. To commemorate … the end of the Human Genome Project and the importance of genomics in people's lives. Starting on April 5th and each …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper. Over time, the extra copper can lead … Wilson disease causes a person's body to store too much of the mineral copper. Many foods contain copper, and it is …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … conducted at the Medical Genetics Branch of the National Human Genome Research Institute by Dr. Ellen Sidransky. Dr. …
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 objectives of the meeting are to: Define currently available approaches … Meeting Objectives … On December 12-13, 2024, the National Human Genome Research Institute (NHGRI) and the National … will co-sponsor the 16th Genomic Medicine meeting, Host Genomics and Infectious Disease: Opportunities for …
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 … tumors that occur chiefly in post-menopausal, obese women of middle age. … Dercum disease - also known as Adiposis … tumors) that occur chiefly in post-menopausal, obese women of middle age. However, although it is 20 times more common …
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 movement. The condition affects about 1 to 2 percent of people over the age of 60 years and the chance of developing PD increases as we …
NEWS RELEASE
Final outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively link microbes and microbial activities with health problems.
… outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively link microbes … live in all parts of your body and make up the diverse human microbiome. These microbiomes support and maintain your … yet know if a change in a microbial community leads to a disease or if a microbial community changes in response to …