Search Results
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 …
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. …
Staff
Dr. Shurjo Sen is a program director in NHGRI's Division of Genome Sciences who manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science.
… program director in 2019 and manages a portfolio of grants at the intersection of data science and genomics. … siloed or centralized data environments in genomics to cloud-based collaborative science and creating learning opportunities empowering a broad future workforce to navigate the massive data volumes produced in genomics …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. Ferreira discusses the challenges of skeletal genomics. … Soo: What was your path to becoming a clinician and a researcher? Ferreira: … to be a physicist or a mathematician. During my last year of high school, I decided to pursue a career in medicine …