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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 … most patients with cblA and cblB show clinical and metabolic improvement with supplementation with a form of …
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
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
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
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 … Specifically, Dr. Shchelochkov is interested in a rare metabolic disorder called propionic acidemia, which affects … with Charles Venditti, M.D., Ph.D. , chief of the NHGRI Metabolic Medicine Branch, that used machine learning to find …
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 …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… Dr. Huizing investigates rare human genetic disorders and associated intracellular processes in order to … in molecular function that underlie various genetic metabolic disorders, with the hope of developing treatments … … Marjan Huizing, rare diseases, genetic disorders, metabolic disorders … Dr. Marjan Huizing is a staff scientist …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… genetic and genomic strategies to understand inherited disorders of inflammation, often stimulated by patients with … … Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics … … Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics …