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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
Talking Glossary
Mosaicism refers to the presence of cells in a person that have a different genome from the body’s other cells.
… Mosaicism … Mosaicism refers to the presence of cells in a person that have a different genome from the body’s other cells. … Mosaicism refers to the presence of cells in a … or the addition or loss of a chromosome. The condition can stem from a genetic error that occurs after fertilization of …
News Release
Researchers are trying to understand a process whose rules are constantly being written and rewritten by cancer's rogue cells: who will more likely relapse.
… being written and rewritten by the cancer's rogue cells. Untangling the genetic influences on these rules will … analyses. This allowed the team to study the cancer cells' genome. A genome can be thought of as a huge DNA … (the chapters), and provides all the instructions for our cells to do their jobs. Because cancer cells have many …
Fact Sheet
Understanding gene therapy for sickle cell disease
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. …
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 … signatures, using human heart, liver and nerve cells from stem cells that have been derived from human skin cells. Such …
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.
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
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 … Second, they reprogrammed patients' skin cells to become stem cells, which could then be differentiated into …
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 …