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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
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… severity of the disease. Learn more about your red blood cells to help you better understand these various approaches. … of treatments A variety of approaches target the blood stem cells to reduce your symptoms of sickle cell disease.  Gene therapies use your own stem cells, while bone marrow transplants use the stem cells …
Educational Resources
A cell is the basic building block of living things.
… … A cell is the basic building block of living things. All cells can be sorted into one of two groups: eukaryotes and … not. Plants and animals are made of numerous eukaryotic cells, while many microbes, such as bacteria, consist of single cells. An adult human body is estimated to contain between 10 …
Educational Resources
The plasma membrane, also called the cell membrane, is the membrane found in all cells that separates the interior of the cell from the outside environment.
… called the cell membrane, is the membrane found in all cells that separates the interior of the cell from the … called the cell membrane, is the membrane found in all cells that separates the interior of the cell from the outside environment. In bacterial and plant cells, a cell wall is attached to the plasma membrane on its …
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 …
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.