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Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney … disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), a disorder of oculocutaneous albinism, … His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to …
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 syndrome. A rare inherited disorder that has been identified …
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.
… disorders, including alkaptonuria, Chediak-Higashi syndrome (CHS), and Hermansky-Pudlak syndrome (HPS). For more than two decades she has been … MCV. The spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive …
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.
… peripheral blood of African Americans related to metabolic syndrome and abdominal obesity. (Health Services Research) … J. Adams: Novel SOX10 variant causing Waardenburg syndrome without cutaneous pigmentary changes. (Clinical … Paul S. Kruszka: Genetic Modifiers in Women with Turner Syndrome and Bicuspid Aortic Valve: Chromosomal Microarray …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… pleuropulmonary blastoma (PPB) cancer predisposition syndrome. This disorder represents the first reported cancer predisposition syndrome due to altered microRNA biogenesis. Tumors … deletions of chromosome 9q: A novel microdeletion syndrome. American Journal of Medical Genetics , 128A (4): …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… CRIA (cleavage-induced RIPK1-induced autoinflammatory syndrome), among others. She is presently working on more effective treatments for PAPA syndrome (pyogenic arthritis, pyoderma gangrenosum, and … Pyogenic arthritis, Pyoderma gangrenosum and Acne (PAPA) Syndrome. In: MacKay I, Rose N (eds) Encyclopedia of Medical …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… genetic testing, such as for a condition like Down syndrome, had to undergo invasive procedures to get a fetal … an abnormal number of chromosomes, such as a trisomy. Down syndrome is a trisomy of chromosome 21, and NIPT for detecting Down syndrome and other chromosomal abnormalities is being widely …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… receptor that cause a dominantly-inherited periodic fever syndrome now known as TRAPS (the TNF receptor-associated periodic syndrome). The manuscript reporting this discovery also … in NLRP3 in a patient with adult-onset Muckle-Wells syndrome (MWS), raising the possibility that other patients …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… of a condition caused by numerical abnormalities is Down syndrome, which is marked by mental disability, learning … tone (hypotonia) in infancy. An individual with Down syndrome has three copies of chromosome 21 rather than two; … in which an individual lacks a chromosome, is Turner syndrome. In Turner syndrome, a female is born with only one …