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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 … a family history of methylmalonic acidemia or cobalamin disorders visit a genetic counselor or physician who …
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 …
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.
… of APS. If the individual has no known underlying autoimmune disorder, the person is said to have primary APS. If the individual has SLE or another underlying autoimmune disorder, the person is said to have secondary … or to affect anticoagulant (anti-clotting) therapy. Skin Disorders Certain skin conditions have also been observed in …
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 various types of these inherited metabolic disorders and the medical complications associated with them. … … People with Methylmalonic Acidemia (MMA) and cobalamin disorders may have difficulty with growth and development, …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… Autism represents a broad group of developmental disorders characterized by impaired social interactions, … … Autism - or more precisely the autism spectrum disorders (ASDs) - represent a broad group of developmental disorders characterized by impaired social interactions, …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.