ChristinaMariePeroutkaMDFAAP, FACMG

Summary

• Christina Peroutka, MD, is a board-certified physician in pediatrics, clinical, general and medical biochemical genetics who specializes in helping infants, children and adults with genetic conditions. She has a particular interest and expertise in inborn errors of metabolism and newborn screening.
  
  Peroutka received her medical degree from the Brody School of Medicine at East Carolina University in Greenville, North Carolina. She completed residency training in pediatrics and genetics at The Johns Hopkins Hospital in Baltimore, Maryland, and a fellowship in medical biochemical genetics at the National Institutes of Health (NIH) in Bethesda, Maryland.
  
  During her residency and fellowship, Peroutka led an electronic medical record (EMR) study to identify patients who are at risk of having a rare metabolic bone condition called hypophosphatasia (HPP), subsequently evaluating at-risk individuals to offer a genetic evaluation, counseling, testing and treatment. She remains interested in EMR query and utilization to identify patients with rare diseases and provide more individualized and effective healthcare.
  
  Peroutka enjoys working with clinical research participants to make new observations and discoveries that can help improve care for patients with rare conditions. She has been involved in bringing new molecular genetic testing methodologies to UVA, especially for patients in the critical care setting. She is also interested in medical education and inspiring the next generation of healthcare providers.
  
  Peroutka is a member of the American Academy of Pediatrics, the American College of Medical Genetics and Genomics, the American Society of Human Genetics and the American Medical Association. She also serves as a clinician volunteer on the Virginia State Newborn Screening Committee.