Cynthia Powell, M.D., M.S. is a professor of pediatrics and genetics at the University of North Carolina (UNC) as well as member of the Carolina Center for Genome Sciences. She is board certified in pediatrics, clinical genetics, clinical cytogenetics and genetic counseling. Her research interests are focused on genetic causes of hearing loss, the use of next generation gene sequencing for newborn screening, ethical issues of genetic testing in children, genetic syndromes, and chromosomal abnormalities.
Dr. Powell received her undergraduate degree from Cornell University in Biology. She completed an M.S. in human genetics at Sarah Lawrence College and went on to receive her medical degree from the Medical College of Virginia (Virginia Commonwealth). Dr. Powell completed her residency in pediatrics followed by a fellowship in medical genetics from the Children’s National Medical Center in Washington, DC. In addition to her professorial role at UNC, she has been the Division Chief since 2004, she is currently the medical director of the cytogenetics lab, and she directs the medical genetics residency program.
Dr. Powell is a principal investigator (PI) on a study funded by the Centers for Disease Control (CDC) which looks into parental attitudes toward genetic services for children with early-onset hearing loss. She is also the PI on the NC Nexus, North Carolina Newborn Exome Sequencing for Universal Screening project. The Exome Sequencing project is part of a larger study funded by the Eunice Kennedy Shriver National Institutes of Child Health and Human Development (NICHD) and the National Human Genome Research Institutes (NHGRI). For this study, Dr. Powell will work at UNC to help sequence the genomes of 400 infants to determine the useful clinical data which can be taken from the tests and help develop educational and consent tools which will help determine how to educate parents and physicians about the tests.
The NBSTRN is very excited to hear more about the valuable work that Dr. Powell is doing and would like to thank her for all her newborn screening research efforts!