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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
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… of Health, particularly the National Heart, Lung, and Blood Institute.” “Most importantly, the project included … of the disease comes from the “sickle” shape of the red blood cells that form in patients with the disorder. Red blood …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… community." In September, NIH's National Heart, Lung, and Blood Institute launched the Cure Sickle Cell Initiative to … Sickle cell disease is the most common inherited blood disorder in the United States, affecting approximately … is caused by a single gene mutation that causes red blood cells to take on an unusual sickle shape. People affected by …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… an autosomal recessive trait. The mutation causes the red blood cells to take on an unusual sickle shape. Individuals …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… cell disease. We will measure biomarkers for stress from blood and hair, and collect self-reported experiences with … and physical environment and current quality of life Blood sample will be collected to study your current health … about Sickle Cell Disease National Heart, Lung, and Blood Institute- Sickle Cell Disease Centers for Disease …
Educational Resources
Apoptosis is the process of programmed cell death.
… It is used during early development to eliminate unwanted cells; for example, those between the fingers of a developing … hand. In adults, apoptosis is used to rid the body of cells that have been damaged beyond repair. Apoptosis also …
News Release
In a study published in the journal Science, collaborators at NHGRI, the National University of Ireland, Galway, and the Whitney Laboratory for Marine Bioscience at the University of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly.
… called Hydractinia, does so because it produces germ cells, which are precursors to eggs and sperm, nonstop … reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly. …
Educational Resources
The nucleolus is a region found within the cell nucleus that is concerned with producing and assembling the cell's ribosomes.
Fact Sheets
A transcriptome is a collection of all the gene readouts present in a cell.
… contains the instructions needed to build and maintain cells. These instructions are spelled out in the form of … when and where each gene is turned on or off in the cells and tissues of an organism. Depending on the technique … nearly every cell contains the same genes, but different cells show different patterns of gene expression. These …
Educational Resources
Mitochondria are membrane-bound cell organelles (mitochondrion, singular) that generate most of the chemical energy needed to power the cell's biochemical reactions.