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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
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… NHGRI. Dr. Bell and her team isolated DNA from tumor cells and from normal cells from patients with CCEC. Their goal was to identify genetic mutations in CCEC tumor cells that are absent from normal cells. The team sequenced …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… change in the gene that produces hemoglobin, the red blood cells that carry oxygen throughout the body. In December …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… presence is necessary for the generation of white blood cells called T follicular helper (TFH) cells in response to a viral infection. These TFH cells then interact with another type of white blood cell - …
Fact Sheet
Sickle cell disease resources for patients
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 …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… controlling movement. Midbrain neurons from the new mouse model. The green shows the clumped alpha-synuclein. … In the study, the authors used a Parkinson's disease mouse model that carried extra copies of a mutated form of … mutated GBA1 protein, so that it can still function. In stem cell-derived neurons made from samples from patients …
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 …