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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
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… Newborn screening tests use a dried blood sample collected during the first week after birth to … all of the current newborn screening tests use a dried blood sample collected during the first week after birth to … and storing newborn genome sequences versus newborn blood specimens? Clinicians, scientists, bioethicists and …
Fact Sheet
Understanding gene therapy for sickle cell disease
… Sickle cell disease is the most common inherited blood disorder in the United States, affecting more than …
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 … that, when mutated, seemed to cause a relapse and drive blood cells that are still in production in the bone marrow … relapse, GATA2, is a sort of "master" switch that controls blood cell production in the bone marrow. In other research, …
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.
… successfully edited the disease-causing mutation in blood-forming cells taken directly from people with sickle-cell disease. … the bone marrow of sickle cell patients, leading to normal red blood cell levels. None of this would be possible without …
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 … enlargement of the liver and spleen, a low number of red blood cells, easy bruising caused by a decreased blood …
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 person that have a different genome from the …
Fact Sheet
Sickle cell disease resources for healthcare providers
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.
… Institute (NHGRI) and the National Heart, Lung, and Blood Institute (NHLBI), both part of NIH, administer the … and genetic factors - that are potentially disruptive to cells. LINCS researchers then will measure the cells' tiniest … the causes, prevention, diagnosis, and treatment of heart, blood vessel, lung, and blood diseases; and sleep disorders. …
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. …
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 …