Search Results
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and … … Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and … Atrophy … Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… … Marfan syndrome is one of the most common inherited disorders of connective tissue. It is an autosomal dominant … once in every 10,000 to 20,000 individuals. … Genetic Disorders …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… easily, often from little or no apparent trauma. … Genetic Disorders …
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 … acidemia (MMA) refers to a group of inherited disorders in which the body is unable to process certain … and homocysteine in body fluids and can have visual and neurological problems. CblD and cblF are more rare conditions …
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.
… to be a potential treatment for other inflammatory skin disorders or disorders related to tissue scarring, whether it is scarring … to be a potential treatment for other inflammatory skin disorders or disorders related to tissue scarring, whether it …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… altered B cell function in children with mitochondrial disorders led to a weaker and less diverse antibody response … activity of immune cells in children with mitochondrial disorders and found that B cells, which produce antibodies to … in more than 350 genes have been linked to mitochondrial disorders with varied symptoms depending on which cells are …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… find disease-causing genomic variants and identify genetic disorders by examining people’s faces . Researchers at the … questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic … diagnose genetic conditions that affect the skin. Genetic disorders are often rare and notoriously difficult to …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… Acidemia study will evaluate patients with MMA and related disorders to learn more about the genetic causes of the … disorders may have difficulty with growth and development, neurological problems such as strokes, seizures and low … with MMA may have difficulty with growth and development, neurological problems such as strokes, seizures and low …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… (a low platelet count), certain skin problems, neurological signs, heart valve disease and certain … or to affect anticoagulant (anti-clotting) therapy. Skin Disorders Certain skin conditions have also been observed in … condition in which the skin tissue dies). Stroke and Other Neurological Disorders Stroke is associated with APS, as are …