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Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… different antibodies that are associated with both arterial and venous thrombosis (clots in the arteries and … off foreign substances) that are associated with both arterial and venous thrombosis (clots in the arteries and … the arteries and veins. … Antiphospholipid Syndrome, APS, Arterial Thrombosis, Venous Thrombosis, Clots, Veins, …
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
… smooth muscle cells modulates inflammation following arterial injury in mice. J. Clin. Invest, 120(1):303-14. … Nussbaum RL, Kleta R, Gahl WA, Boehm M. NT5E mutations and arterial calcifications. N. Engl. J. Med, 364(5):432-42. … human induced pluripotent stem cells (hiPSCs), arterial calcification … Dr. Manfred Boehm is a an adjunct …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… involved uncovering the genetic basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or ACDC, as the team … Program (UDP), Undiagnosed Diseases Network (UDN), Arterial Calcification due to Deficiency of CD73 (ACDC) … Dr. …
Staff
Dr. Ferreira was a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… early life due to cardiovascular involvement (Generalized Arterial Calcification of Infancy), whereas those who survive the … phenotyping of long-term survivors of Generalized Arterial Calcification of Infancy (GACI) . Genetics in …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… condition is associated with progressive and painful calcification of the arteries in a person's hands and legs, … could provide insights into understanding and treating calcification that frequently occurs in persons with advanced …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the 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 … processes of CVD or CVD phenotypes (e.g. coronary artery calcification, microalbuminuria, leukocyte telomeres, or …
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 …
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 … of a new disease of vascular calcification called arterial calcification due to deficiency of CD73 (ACDC) and …
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.
… and protein evidence connects TREML4 to coronary artery calcification. Am J Hum Genet . 2014 Jul 3;95(1):66-76 [ … of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines. BMC …
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.
… Ferreira: We also characterized patients with generalized arterial calcification of infancy, starting with a natural history …