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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.
… later in development. Mosaicism can affect any type of cell and does not always cause disease. … Mosaicism refers to …
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.
Fact Sheet
Sickle cell disease resources for healthcare providers
… Education Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational … Management of SCD: Expert Panel Review, 2014 CDC Sickle Cell Info for Healthcare Providers  American College of …
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.
… approved two gene therapies for the treatment of sickle cell disease in patients 12 years and older. About 100,000 … and millions of people around the world have sickle cell disease , a hereditary disease common among those whose … technology is critical to the diagnosis of sickle cell disease.  NIH researchers successfully edited the …
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.
… of DNA that serve to carry the genomic information from cell to cell. … Chromosomes are threadlike structures made of protein … of DNA that serve to carry the genomic information from cell to cell. In plants and animals (including humans), …
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.
… asked patients, parents and physicians in the sickle cell disease community what they wanted and needed to know … treatments, which appear to provide a potential for sickle cell, are among the most widely publicized medical advances … of the Bioethics Core at NHGRI. “By talking to sickle cell disease stakeholders ahead of time, we can learn more …
Talking Glossary
A gamete is a reproductive cell of an animal or plant.
… Gamete … A gamete is a reproductive cell of an animal or plant. … A gamete is a reproductive cell of an animal or plant. In animals, female gametes are … called sperm. Ova and sperm are haploid cells, with each cell carrying only one copy of each chromosome. During …
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.
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.
… spleen, bone marrow and nervous system. The main type of cell that is affected by accumulated glucocerebroside is the macrophage, a type of white blood cell. Macrophages are cellular housekeepers that dispose of cell debris and pathogens. According to the study, …