Search Results
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… review medical records to determine if the participant’s medical history is consistent with an autoinflammatory syndrome, or if there are other studies that may be more … One Gene at a Time … Lab Team Brynja Matthiasardottir, M.S. Christina Kozycki, M.D., M.PH. Elaine Remmers, Ph.D. …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… side (ipsilateral hand). Sometimes referred to as "Poland syndrome," it is an uncommon condition present at birth … Additional Resources for Poland Anomaly Medscape: Poland Syndrome MedicineNet: Poland Syndrome Medline Plus: Poland Syndrome Genetics Home …
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 …
Staff
Dr. Ferreira was 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 …
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 …
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 … Genetics as a Senior Research Physician. … 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 …