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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.
Educational Resources
Transgenic means that one or more DNA sequences from another species have been introduced by artificial means.
… means. … Cell, Cloning, Deoxyribonucleic Acid (DNA), Gene, Germ Line … Transgenic refers to an organism or cell whose …