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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
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double … is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double … … Holoprosencephaly, HPE, Birth Defect, Prosencephalon, Embryonic Forebrain, Facial Defects, Alobar, Semilobar, …
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 …
Fact Sheets
A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.
… into adult mice. The lack of adult mice limits studies to embryonic development and often makes it more difficult to … disease.  … Researchers begin by harvesting embryonic stem (ES) cells from early-stage mouse embryos four days after …
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
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 …