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News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… Diseases Network , had unusual and unclassified disorders. “Our objective was to see if any of the 2,560 … the 800 genes, one stood out. Three middle-aged males had rare and potentially damaging genomic variants in the UBA1 … the causes, treatments and cures for both common and rare diseases. For more information about NIH and its …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… broadened the traits and symptoms associated with known disorders, and offered insights into newly described disorders. The study was published in the American Journal of … research can work, especially for identifying people with rare disorders who otherwise might not have been brought to …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… unparalleled in several respects. It exposes trainees to rare metabolic disorders that might not be seen in a more typical … Programs, Physicians, Metabolic Genetic Disorders, Rare Genetic Disorders, Newborn Screening … A one-year …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases. … The Department of Health and … possible treatments for people suffering from unknown and rare genetic conditions.   Bill Gahl, M.D, Ph.D., Senior …  in 2011. To date, they have discovered 23 new genetic disorders and disease phenotypes. "The UDP has been an …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… An electronic catalog of human genes and genetic disorders, developed by the National Center for Biotechnology … Smell? [sciencenews.org] Modern science puts its mark on a rare but ancient body-odor disease An article about … Information from the Genetics and Rare Diseases Information Center. Finding Reliable Health …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… skeletal deformities frequently contribute to breathing disorders. Cardiomyopathy (enlarged heart) occurs in almost … Genetics HOME Reference The National Organization for Rare Disorders Scientists Come Step Closer to New Muscular …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… resulting in anemia.​ … Thalassemia, Inherited Blood Disorders, Hemoglobin, Anemia, Alpha Thalassemia, Beta … to produce hemoglobin, resulting in anemia. … Genetic Disorders …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… the causes and biology of a number of congenital disorders as well as applying emerging technologies and … Unit Genetic conditions, though often individually rare, are common in aggregate, and disproportionately impact … pediatrics, clinical genetics, congenital disorders, rare diseases … Dr. Benjamin Solomon is the Clinical Director …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… of new findings about the biology and development of a rare form of kidney cancer. … They found that the disease - … of 50 of the 66 ChRCC tumors studied, a high number for a rare cancer. The study revealed increased numbers of … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its …
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 … test new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve … NIH, and worldwide. The Branch attracts patients with rare disorders and engages in collaborations that have led to …