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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
… when two genetic neighborhoods merge in brain tumor cells. Researchers found that one gene came under the control … IDH gene was mutated, particular portions of the cancer cells' DNA became studded with chemical tags called methyl … of these genetic neighborhoods, a gene called PDGFRA makes cells grow, or increase in number, but is rarely turned on. …
Fact Sheet
Sickle cell disease resources for healthcare providers
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… edited the disease-causing mutation in blood-forming cells taken directly from people with sickle-cell disease. …
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… and genetic factors - that are potentially disruptive to cells. LINCS researchers then will measure the cells' tiniest molecular and biochemical responses, and use … common patterns, as well as uncommon behavior, in how cells respond to being exposed to various small molecules, …
Talking Glossary
Chromosomes are threadlike structures made of protein and a single molecule of DNA that serve to carry the genomic information from cell to cell.
… (including humans), chromosomes reside in the nucleus of cells. Humans have 22 pairs of numbered chromosomes …
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
Talking Glossary
A gamete is a reproductive cell of an animal or plant.
… or plant. In animals, female gametes are called ova or egg cells, and male gametes are called sperm. Ova and sperm are haploid cells, with each cell carrying only one copy of each …
Talking Glossary
Methylation is a chemical modification of DNA and other molecules that may be retained as cells divide to make more cells. regulating the production of proteins that the gene encodes.
… of DNA and other molecules that may be retained as cells divide to make more cells. … Methylation is a chemical modification of DNA and other molecules that may be retained as cells divide to make more cells. When found in DNA, …
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.
… Medicine that they have succeeded in coaxing cultured cells to exhibit the signature traits of the disease. Using … that has successfully corrected the malfunctioning cells. … Gaucher disease is an inherited condition caused by … of the liver and spleen, a low number of red blood cells, easy bruising caused by a decreased blood platelets, …
The Genomics Landscape
In the July 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the legacy the LINCS program leaves as it has completed its goal of creating a large-scale, systematically generated molecular and cellular dataset.
… and cellular dataset to help scientists understand how cells respond to specific biological and environmental … LINCS program generated dataset to help understand how cells functio … NHGRI and NCI award $33 million to improve … LINCS program generated dataset to help understand how cells function … In the July 2021 issue of The Genomics …