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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
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… affect the brain, spinal cord, nerves and skin. … 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 … a family history of methylmalonic acidemia or cobalamin disorders visit a genetic counselor or physician who …
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 …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… resulting in strokes. The treatment works by blocking the inflammatory effects of a protein - tumor necrosis factor … significant improvement in laboratory studies such as inflammatory markers, iron and red blood cell counts. They … for an unknown reason. … Benefits of the Treatment … Anti-inflammatory drug halts strokes in children with rare disease …
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 …
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, …