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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 Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… work together at many different levels - from organs to cells to genes. From both inside and outside the body, cells … substances, such as hormones, that travel through the blood to distant target cells. These biological pathways … a drug that was specifically designed to treat a blood cancer called chronic myeloid leukemia (CML). CML …
The Genomics Landscape
In the May 2021 issue of the Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. notes that a number of individuals with strong ties to NHGRI have been nominated and/or appointed to serve on the White House Science Team.
… NHGRI have been nominated and/or appointed to serve on the White House Science Team. Francis Collins, M.D., Ph.D., will … as President Biden’s science advisor and director of the White House Office of Science and Technology Policy (OSTP). … NHGRI have been nominated and/or appointed to serve on the White House Science Team. … In the May 2021 issue of the …
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, …
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 …
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. … bone marrow of sickle cell patients, leading to normal red blood cell levels. None of this would be possible without …
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
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 … accumulated glucocerebroside is the macrophage, a type of white blood cell. Macrophages are cellular housekeepers that …