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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
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… from the lungs to other parts of the body. Red blood cells with normal hemoglobin (hemoglobin-A) are smooth and … rod-like structures. These structures cause red blood cells to become stiff, assuming a sickle shape. Their shape causes these red blood cells to pile up, causing blockages and damaging vital organs …
Educational Resources
The cell membrane, also called the plasma membrane, is found in all cells and separates the interior of the cell from the outside environment.
… membrane, also called the plasma membrane, is found in all cells and separates the interior of the cell from the outside … … Plasma Membrane, Proteins, Glycoproteins, Lipid Bilayer, Cells … The cell membrane, also called the plasma membrane, is found in all cells and separates the interior of the cell from the outside …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
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 and 100 …
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
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 …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
… served on the Scientific Advisory Boards of the Center for Stem Cell and Regenerative Medicine, the National Disease … process of generating all of the different types of blood cells (erythrocytes, lymphocytes, platelets, etc.) … from a small population of pluripotent hematopoietic stem cells. As pluripotent hematopoietic stem and progenitor …
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 - …