Kelly E. Regan-Fendt, MD, PhD

Dr. Kelly Regan-Fendt is a practicing clinical geneticist and researcher at Ann & Robert H. Lurie Children's Hospital. She focuses her care on children with genetic neurodevelopmental disorders and congenital birth differences. Dr. Regan-Fendt is involved in several multi-disciplinary clinics at Lurie Children's, including the 22q Center and Bardet Biedel Syndrome Clinic.

Dr. Regan-Fendt completed her pediatrics and genetics training at Children’s Hospital of Philadelphia. She completed her medical degree through the Medical Scientist Training Program at The Ohio State University, where she also completed a PhD in biomedical informatics. Her PhD thesis focused on developing and validating a novel computational method to enable drug repurposing.

Dr. Regan-Fendt is motivated to advance treatment discoveries for genetic diseases. Her research interests include clinical genetics and genomics, translational biomedical informatics, drug discovery, and gene therapy. She was appointed Edwards Family Division of Genetics and Rare Diseases Gene Therapy Research Scholar to support gene therapy research for rare genetic disease. Her clinical research focuses on CerTra syndrome, a rare neurogenetic condition caused by mutations in the CERT1 gene, where she is focused on leading a natural history study of the disease and developing lipidomics-based biomarkers.