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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
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… the disease comes from the “sickle” shape of the red blood cells that form in patients with the disorder. Red blood cells contain the protein hemoglobin, which carries oxygen in …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… 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.
… recessive trait. The mutation causes the red blood cells to take on an unusual sickle shape. Individuals …
Educational Resources
A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infection by viruses.
… or infection by viruses. … Mutation, DNA Sequence, Germ Line, Gene … A mutation is a change in the DNA sequence … to offspring, while somatic mutations (that occur in body cells) are not passed on. … A mutation is a change in a DNA …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… cell disease, a genetic condition that causes red blood cells to become rigid and sticky, which blocks blood flow. …
Fact Sheet
Learn about the different types of hemoglobin.
… and gene therapy , you should first know about blood cells and the different types of hemoglobin that make up red blood cells. … Hemoglobin types and sickle cell disease Your red blood cells contain hemoglobin , a protein that carries oxygen. Red …
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 …
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 …