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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 …
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 …
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 …
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, … resulting in anemia. Hemoglobin is a protein in red blood cells that carries oxygen and nutrients to cells in the body. …
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 …
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.
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 …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… as an autosomal recessive trait. The mutation causes the red blood cells to take on an unusual sickle shape. Individuals …