Genetic and Chromosomal Syndromes & Newborn Screening
Cynthia Powell, M.D., M.S. is an Associate Professor of Pediatrics and Genetics at the University of North Carolina at Chapel Hill and Chief of the Division of Genetics and Metabolism in the Department of Pediatrics at UNC School of Medicine. She is also the Medical Director of the Cytogenetics Laboratory at UNC Hospitals and Director of the Medical Genetics Residency Program. She received her medical degree from the Medical College of Virginia (Virginia Commonwealth University) and completed her pediatric residency at Children’s National Medical Center in Washington, DC where she also did a fellowship in Medical Genetics in a combined program with the National Institutes of Health. She is board-certified in Pediatrics, Clinical Genetics, Cytogenetics and Genetic Counseling. Her clinical and research activities include genetic causes of hearing loss, Native American myopathy, constitutional chromosome abnormalities and newborn screening for genetic disorders. She is PI in a study looking at parental attitudes of genetic services for children with early-onset hearing loss funded by the Centers for Disease Control and the Association of American Medical Colleges. She previously participated in a study at the Hastings Center looking at the disability rights critique of prenatal genetic testing. She was recently elected to the Board of Directors of the American Board of Medical Genetics and to the Executive Committee of the American Academy of Pediatrics Section on Genetics and Birth Defects.
Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues. Authors: Bailey DB, Skinner D, Davis A, Whitmarsh I, Powell C. Pediatrics; 121(3):e693-704, 2008.
Native American myopathy: Congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. Stamm DS, Aylsworth AS, Stajich JM, Kahler SG, Thorne LB, Speer MC, Powell CM. Am J Med Genet A;146A(14):1832-41, 2008 Jul 15.
Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.
Stamm DS, Powell CM, Stajich JM, Zismann VL, Stephan DA, Chesnut B, Aylsworth AS, Kahler SG, Deak KL, Gilbert JR, Speer MC. Neurology;71(22):1764-9, 2008 Nov 25.
Weaver syndrome and neuroblastoma. Coulter D, Powell CM, Gold S. J Pediatr Hematol Oncol, (10):758-60, 2008 Oct 30.
Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).
Fritchie K, Siintola E, Armao D, Lehesjoki AE, Marino T, Powell C, Tennison M, Booker JM, Koch S, Partanen S, Suzuki K, Tyynelä J, Thorne LB. Acta europathol;117(2):201-8, 2009 Feb.
Seizures in Prader-Willi syndrome: a study of 56 patients and review of the literature
Fan Z, Greenwood R, Fisher A, Pendyal S, Powell CM. Am J Med Genet A [Epub ahead of print], 2009 Jun 16.