Genetics & Metabolism
Pediatric Genetics and Metabolism offers diagnosis, management, and genetic counseling for children and adults with disorders known or suspected to be inherited from a family member, resulting from a change in a person’s genetic code. Such disorders include birth defects, chromosomal abnormalities, unexplained mental retardation and inborn errors of metabolism. Our providers play a vital role with the State of North Carolina’s Newborn Screening Program, frequently identifying and treating disorders in newborn from across the state before the effects of a genetic disorder are irreversible. Our faculty are intentionally known for cutting-edge research and new treatments developed from clinical trials spanning decades.
The Mission of the Division of Genetics and Metabolism is to:
- Provide state of the art care and support to children and adults with genetic and inherited metabolic disorders
- Develop and implement innovative diagnostic tests and treatments for genetic and inherited metabolic disorders through cutting-edge research
- Educate students, clinicians, patients and their families as well as the wider community about genetics and genomics
GENETICS & METABOLISM NEWS
-
Early Check Study to Use Genome Sequencing to Dramatically Expand Voluntary Screening Offered for NC Newborns
This RTI/UNC-Chapel Hill collaboration will be the first US study offering genome sequencing and genetic risk scores for type 1 diabetes statewide. UNC School of Medicine leads are Cynthia Powell, MD and Jennifer Law, MD in Pediatrics. Early Check, a groundbreaking research study that provides free health tests to newborns up to four weeks old in North Carolina, will begin offering genome sequencing to screen for hundreds of childhood-onset genetic conditions and assess a newborn’s risk of developing type 1 diabetes in their lifetime. Enrollment for the expanded study is expected to begin Thursday, Sept. 28.
-
Welcome New Genetic Counselor: Jennifer Sullivan, MS
Jennifer Sullivan joined Genetics and Metabolism on August 21, 2022. In 1994, Ms. Sullivan received her Bachelor of Science degree in Biomedical Engineering from Northwestern University in Evanston, Illinois. She received a Master of Science in Genetic Counseling from the University of South Carolina in Columbia, South Carolina in 1996. Ms. Sullivan has worked as a Genetic Counselor at Duke University since 1997. Welcome Jennifer!
-
Welcome New Physician Faculty: Michael Adams, MD
Michael Adams joined the Division of Genetics and Metabolism as a Clinical Instructor on February 1, 2023. Dr. Adams earned a master’s degree in Biomedical Engineering at Duke University in 2010 and his MD with us at the University of North Carolina at Chapel Hill in 2016. He completed a residency in Internal Medicine at the Ohio State Wexner Medical Center in 2019, followed by a Clinical Genetics Fellowship with the Pediatric Division of Genetics and Metabolism at UNC in 2021. He has been maintaining his clinical skills with us in Pediatrics while doing post-doctoral work with the Carolina Health Informatics Program at UNC since 2021. Congratulations Michael!
-
Welcome New Researcher: Sara Powell, PhD
Sara K. Powell joined the joined the Department of Pediatrics as an Assistant Professor in the Division of Genetics and Metabolism on September 1, 2022. Dr. Powell earned her PhD in Genetics and Genomics from Duke University in 2014. Dr. Powell began her post doctoral training with the UNC-CH Gene Therapy Center in 2014 and has been a Senior Research Assistant in the McCown Lab since 2021. Congratulations Sara!