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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 … of the National Human Genome Research Institute from 2011 to 2021, and continues to maintain a busy lab in the Medical …
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 proteins and fats (lipids) properly. … in the body. Vitamin B12 deficiency states that are not due to genetic causes, such as vitamin B12 deficiency, can …
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. … 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 …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… Equipped with the power of genomic information and state-of-the art resources available at the National Institutes of … basis of disease will pave the way for more effective ways to diagnose, treat and prevent illness. … types of Hermansky-Pudlak Syndrome, for Proteus syndrome, Arterial Calcification due to Deficiency of CD-73 (ACDC), and …
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 … has spearheaded the discovery of a new disease of vascular calcification called arterial calcification due to deficiency of CD73 (ACDC) and …
Staff
Dr. Ferreira was a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… Dr. Carlos Ferreira went to medical school at the National University of Asunción, completed an Internal Medicine residency at Rush … in medical biochemical genetics at NHGRI (2015). From 2015 to 2018, he worked as an attending physician in the Division … early life due to cardiovascular involvement (Generalized Arterial Calcification of Infancy), whereas those who survive …
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.
… month, NHGRI experienced the closest thing that we have to a birthday celebration. On January 14, 1997, NHGRI was … turned 22 years old as an Institute - so happy birthday to us! Last month also brought the largest event to date … (see story below). This gathering was nothing short of intense, stimulating, and exhilarating, with numerous …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… They 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 annual meeting of the American Society of Human Genetics (ASHG). … 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 … science resource for defining the biological significance of ancestry-related genomic variation in African-Americans. … (e.g. hypertension) and phenotypes (e.g. coronary artery calcification) in African-Americans (AA). To examine the …