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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
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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 …
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 …
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.
… ulcers. These and other symptoms result when mutated red blood cells take a sickle shape, blocking blood flow and decreasing oxygen delivery. Little is known …
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. …
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, … is actually 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. …
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 …
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 …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
… After postdoctoral work at NIH's National Heart, Lung and Blood Institute, Dr. Bodine founded the Hematopoiesis Section … College in 2013 for his contributions to the genetics of blood disorders. As a graduate student, he was the recipient … process of generating all of the different types of blood cells (erythrocytes, lymphocytes, platelets, etc.) …