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Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB … embryology, inborn errors of metabolism, and neurogenetic disorders. … new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… is a pattern of inheritance characteristic of some genetic diseases. … Trait, Inherit, Genetic Diseases, Chromosomes, Mutation, Recessive, Dominant … is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… Methylmalonic acidemia refers to a group of inherited disorders in which the body is unable to process certain … Methylmalonic acidemia (MMA) refers to a group of inherited disorders in which the body is unable to process certain … body. Vitamin B12 deficiency states that are not due to genetic causes, such as vitamin B12 deficiency, can also …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… Genome sequencing reveals genetic basis for disabling pansclerotic morphea, a severe … to reduced mobility. Because the disorder is so rare, its genetic cause had not been identified until now. “Researchers … to be a potential treatment for other inflammatory skin disorders or disorders related to tissue scarring, whether it …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… Genetic Counseling … Genetic counseling is the professional interaction between a … Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health Professional … Genetic counseling refers to guidance relating to genetic disorders that a specialized healthcare professional (genetic …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities … Women often request noninvasive screening tests to detect genetic conditions. These tests, however, typically focus … sequencing all 24 chromosomes to uncover other, rare disorders in pregnancy. Image Credit: Getty Images. The …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Factor V Leiden is the name of a specific mutation (genetic alteration) that results in thrombophilia, or an … a screening test called a coagulation screening test or by genetic testing (DNA analysis) of the F5 gene. … Factor V Leiden is the name of a genetic mutation that results in thrombophilia (increased …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to … Genetic Testing, Genetic Disorder, Alleles, Inheritance, Family Health History … screening involves testing to see if a person “carries” a genetic variation (allele) associated with a specific disease …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… or to affect anticoagulant (anti-clotting) therapy. Skin Disorders Certain skin conditions have also been observed in … which the skin tissue dies). Stroke and Other Neurological Disorders Stroke is associated with APS, as are some other … stream, causing embolic events. Lupus and Other Autoimmune Disorders APS is classified within the category of autoimmune …
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… have assembled answers to frequently asked questions about genetic disorders, the impact of genomics on your health, and the … FAQs about genetic disorders, the impact of genomics on your health, and the … Health History, Pharmacogenomics, Undiagnosed Disease, Genetic Disease, Genetic Condition, Genetic Disorder, Genetic …