Search Results
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… to two different populations of Hermansky-Pudlak Syndrome patients in Puerto Rico. NHGRI researchers are … for a variety of periodic fevers, for Gray Platelet Syndrome and four types of Hermansky-Pudlak Syndrome, for … for a new form of methylmalonic acidemia. However, NHGRI's clinical research endeavors extend far beyond searches for …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… In 2016, Dr. Merideth became the Program Director of NHGRI’s Medical Biochemical Genetics Fellowship Program, and … term as Chair of the Graduate Medical Education Committee’s (GMEC) Policy Subcommittee, at NIH. Dr. Merideth represents … first Natural History Study in Hutchinson-Gilford Progeria Syndrome (HGPS), developing outcome parameters which were …
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. Ferreira is a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… in the Division of Genetics and Metabolism at Children's National Medical Center. In 2019, he became an appointee of … elucidated the molecular defect underlying Saul-Wilson syndrome, a rare skeletal dysplasia, and the genetic basis of … J, Ferreira CR , Lewanda A, Mayfield JE, Moresco E,Ludwig S, Tang M, Li X, Lyon S, Xie X, Khanshour A, Paria N, Khalid …
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 …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… organelles (LROs), including Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome, and Griscelli … 2004. [ PubMed ] Huizing M., Rakocevic G., Sparks S.E., Mamali I., Shatunov A., Goldfarb L., Krasnewich D., … D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M. Mutation in the key …
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 … disorders, including alkaptonuria, Chediak-Higashi syndrome (CHS), and Hermansky-Pudlak syndrome (HPS). For more … 31:31-36. Avadhanula S * , Introne WJ*, Auh S, Soldin SJ, Stolze B, Regier D, Ciccone C, Hannah-Shmouni F, Filie …
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) …
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 …