Search Results
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… severe form of the disease is Hutchinson-Gilford progeria syndrome, recognizing the efforts of Dr. Jonathan Hutchinson, … a key role in stabilizing the inner membrane of the cell's nucleus. In laboratory tests involving cells taken from … That abnormal protein appears to destabilize the cell's nuclear membrane in a way that may be particularly harmful …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… Dr. William A. Gahl earned his B.S. in biology from the Massachusetts Institute of Technology … a Ph.D. degree in oncology research from Wisconsin's McArdle Laboratories for Cancer Research in 1981 and served … His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney …
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… been identified in this APC gene. Individuals with this syndrome develop many polyps in their colon. People who … (hereditary nonpolyposis colon cancer) also called Lynch Syndrome Individuals with an HNPCC gene mutation have an … detected by the commonly used gene tests. The test for FAP syndrome involves examining DNA in blood cells called …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… of New Mexico; pediatric residency from Children’s National Medical Center in Washington, D.C.; fellowship … Dr. Introne’s research focuses on several rare inherited and metabolic … disorders, including alkaptonuria, Chediak-Higashi syndrome (CHS), and Hermansky-Pudlak syndrome (HPS). For more …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… a broader understanding of cancer occurrence. Dr. Stewart's research focuses on neurofibromatosis type 1 (NF1), a … stromal tumors and pulmonary hypertension. Dr. Stewart's group is using genomic approaches to identify genetic … pleuropulmonary blastoma (PPB) cancer predisposition syndrome. This disorder represents the first reported cancer …
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.
… platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of the … discussion by describing the latest developments of the U.S. Precision Medicine Initiative (PMI). Other noteworthy … peripheral blood of African Americans related to metabolic syndrome and abdominal obesity. (Health Services Research) …
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… Conceals Social Determinants: The Case of Down Syndrome and COVID-19 Sara M. Bergstresser, Columbia …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… fever (FMF), and later stayed in the same group as a s taff scientist. In 2010, she moved with Dr. Kastner to the … receptor that cause a dominantly-inherited periodic fever syndrome now known as TRAPS (the TNF receptor-associated … mutations in TNFAIP3 in patients with early-onset Behçet's-like disease, denoted haploinsufficiency of A20 (HA20), and …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… She completed her pediatrics residency at the Children’s Hospital of Pittsburgh and fellowship in Clinical Genetics … Fellow for 2 years. In 2007, she joined Dr. Daniel Kastner’s group that studies autoinflammatory diseases resulting from … Dr. Stone’s research focuses on autoinflammatory diseases: their …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… an unborn baby using a small sample of a pregnant mother's blood? Pregnancy can be a stressful time, and for many … genetic testing, such as for a condition like Down syndrome, had to undergo invasive procedures to get a fetal … of fetal DNA that naturally circulates in the mother's blood during pregnancy. Pregnant women now have the option …