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Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… in 1973 and a Ph.D. and M.D. from Baylor College of Medicine by 1982. After completing Internal Medicine … residency and chief residency at Baylor, Dan moved to the National Institutes of Health (NIH) in 1985. He served … disorders, including phospholipase Cγ2-associated antibody deficiency and immune dysregulation (PLAID), a separate …
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 … a buildup of methylmalonic acid in the body. Vitamin B12 deficiency states that are not due to genetic causes, such as vitamin B12 deficiency, can …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… types of Hermansky-Pudlak Syndrome, for Proteus syndrome, Arterial Calcification due to Deficiency of CD-73 (ACDC), and for a new form of …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, 3-methylglutaconic aciduria type …
Educational Resources
Hemophilia is an inherited disease, most commonly affecting males, that is characterized by a deficiency in blood clotting.
… most commonly affecting males, that is characterized by a deficiency in blood clotting. … Hemophilia, Blood Clotting, X … most commonly affecting males, that is characterized by a deficiency in blood clotting. The responsible gene is located … on the X chromosome, and since males inherit only one copy of the X chromosome, if that chromosome carries the mutated …
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… recalls the discovery of the program's first new disease - Arterial Calcification due to Deficiency of CD73; this work was published in the …
Staff
Dr. Ferreira is a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… dysplasia. ENPP1 deficiency is often fatal in early life due to cardiovascular involvement (Generalized Arterial Calcification of Infancy), whereas those who survive the …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… are underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a global effort to raise awareness of rare diseases. Several NHGRI staff … condition is associated with progressive and painful calcification of the arteries in a person's hands and legs, …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th … C 279. Steven E. Boyden: Vibration-induced urticarial due to aberrant mast cell degranulation caused by a mutation … on chromosome 9p21, is downregulated in coronary artery calcification. (Cardiovascular Genetics) 1381T. Anthony M. …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… Environmental Factors and the Social Determinants of Cardiovascular Disease in Africans Americans Study … of CVD in AA. The specific goals of the study are: To examine the associations between common or … (e.g. hypertension) and phenotypes (e.g. coronary artery calcification) in African-Americans (AA). To examine the …