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Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… common in other populations. A mutation in the factor V gene (F5) increases the risk of developing factor V Leiden … individuals. There are some individuals who have the F5 gene and who never develop thrombosis, while others have … as oral contraceptive pills (OCPs) and hormone replacement therapy (HRT), including estrogen and estrogen-like drugs) …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… inherited conditions, a parent who carries an altered gene that causes the condition has a 1 in 2 (50 percent) chance to pass on that altered gene to each of his or her children. The altered gene (gene … LDL cholesterol and/or early heart attack. Elevated and therapy-resistant levels of LDL in either or both parents. …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… (FIX). The two types of hemophilia are caused by permanent gene changes (mutations) in different genes. Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause … is serious. When bleeding has damaged joints, physical therapy is used to help them function better. Physical …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… who received two copies of the mutant (altered) gene that causes FMF, one from each parent. As many as 1 in 5 … Arab and Turkish heritage have one mutant copy of the gene and are therefore carriers of FMF, which means they … can only treat the symptoms of the disease. A common therapy for FMF is daily use of the drug colchicine, a …
News Release
NIH researchers searched for how the body signals the lack of oxygen in melanoma skin cancer.
… they can be used to determine tumor stage, diagnosis, therapy selection and when to monitor for disease recurrence. …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… make breathing difficult. Everyone has two copies of the gene for AAT and receives one copy of the gene from each parent. Most people have two normal copies of … with AATD smokes, is essential. Replacement (augmentation) therapy with the missing AAT protein is available, although …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… disease is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11. Hemoglobin transports oxygen … A baby born with sickle cell disease inherits a gene for the disorder from both parents. When both parents … is a risky procedure with many complications. Gene Therapy Offers Promise of a Cure: Researchers are …
News Release
NIH researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
… found by the researchers in some tumor DNA, decreases a gene's activity. Based on this advance, the researchers hope … but we found an elevated methylation signature around the gene known as ZNF154 that is unique to tumors." Dr. Elnitski … in check. Researchers also don't know exactly what the gene ZNF154 does. "We have laid the groundwork for developing …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… out of the lysosome. Dr. Gahl also demonstrated effective therapy for nephropathic cystinosis, bringing cysteamine to … aciduria type III, HPS-2, HPS-3 and HPS-9. The gene responsible for HPS-9, PLDN encodes pallidin, a member … identified NBEAL2 as the gray platelet syndrome (GPS) gene. GPS platelets have no alpha granules, which store …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… are rare and typically due to alterations in a single gene. The Centers for Mendelian Genomics have made … variant discovery, genomics and medicine, Adam Felsenfeld, gene variant discovery … NHGRI convened geneticists, …