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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 Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… before it is complete. … Step 4: Preparation for stem cell collection (~90 days) Gene therapy requires stem cells to be collected from your bone marrow or blood, taken …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… These and other symptoms result when mutated red blood cells take a sickle shape, blocking blood flow and decreasing … to improve our understanding of the disease." Normal blood cells (left) and the blood cells in Sickle cell disease, which do not flow through the …
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.
… 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 …
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 … which causes different health complications. … Blood stem cells (also called hematopoietic stem cells) are cells that can develop into any type of blood …
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 …
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. …
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 …