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News Release
Scientists set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to better understand how the genome works.
… its make-up is different among cell types, even among cells that are similar. Investigators from two National Human … creating maps of what chromatin looks like in individual cells. They've combined several technologies, including DNA … have gained insights into how genomic information inside cells is controlled - literally turned on or off. The study …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Factor V Leiden thrombophilia is an inherited disorder of blood clotting. … Factor V Leiden is the name of a specific … thrombophilia, or an increased tendency to form abnormal blood clots in blood vessels. People who have the factor V Leiden mutation …
News Release
A new study by scientists at NHGRI, suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning.
… stem cell) and change it into different types of cells in the body. … Called induced pluripotent stem cells (iPSCs), this technique opens the doors to medical … a healthy person and the second set from a person with a blood disease called familial platelet disorder. Using skin …
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.
… leg ulcers. These and other symptoms result when mutated red blood cells take a sickle shape, blocking blood flow and decreasing …
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 …
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 …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project utilizes a deliberative stakeholder-engagement approach to develop patient educational materials for sickle cell disease gene therapy.
… to five educational focus areas: Understanding the red blood cell Understanding gene therapy approaches  Clinical …
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. …