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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
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… But its presence is necessary for the generation of white blood cells called T follicular helper (TFH) cells in response to a … These TFH cells then interact with another type of white blood cell - called B cells - that actually produce the …
Fact Sheet
Sickle cell disease resources for patients
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… Hemophilia is a bleeding disorder that slows down the blood clotting process. … People who have hemophilia often … People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who … Proteins made by these genes have an important role in the blood clotting process. Mutations in either gene keep clots …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, … resulting in anemia. Hemoglobin is a protein in red blood cells that carries oxygen and nutrients to cells in the body. …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… also be required to have: Certain screenings (e.g., MRI, blood tests). A genetic test to determine if there are … cell collection (~90 days) Gene therapy requires stem cells to be collected from your bone marrow or blood, taken to a lab for modification, then returned to you. …
Educational Resources
A lymphocyte is a type of white blood cell that is part of the immune system.
… Lymphocyte … A lymphocyte is a type of white blood cell that is part of the immune system. … Lymphocytes, White Blood Cell, Immune System … A lymphocyte is a type of white … immune system. There are two main types of lymphocytes: B cells and T cells. The B cells produce antibodies that are …
Educational Resources
An antibody is a protein component of the immune system that circulates in the blood, recognizes foreign substances like bacteria and viruses, and neutralizes them.
… component of the immune system that circulates in the blood, recognizes foreign substances like bacteria and … and neutralizes them. … Immune System, Bacteria, Virus, Blood, Circulation, Disease, Antigen … An antibody is a … component of the immune system that circulates in the blood, recognizes foreign substances like bacteria and …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… breathing a collective sigh of relief now that a simple blood draw is replacing a giant needle to the belly for … for a range of genetic disorders. This non-invasive blood test, combined with advances in genomic medicine, has … they view the related ethical issues." Through a simple blood test, physicians will soon be able to determine 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.
… of Health, particularly the National Heart, Lung, and Blood Institute.” “Most importantly, the project included … name of the disease comes from the “sickle” shape of the red blood cells that form in patients with the disorder. Red blood …