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Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Factor V Leiden thrombophilia is an inherited disorder of blood clotting. … thrombophilia, or an increased tendency to form abnormal blood clots in blood vessels. People who have the factor V … thrombophilia. Between 3 and 8 percent of the Caucasian (white) U.S. and European populations carry one copy of the …
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
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
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 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 … aim to improve our understanding of the disease." Normal blood cells (left) and the blood cells in Sickle cell …
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. …
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 … Immune System, Bacteria, Virus, Blood, Circulation, Disease, Antigen … 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 …