Frances A High, MD, PhD

Dr. High is a physician-scientist in the field of human genetics with specific interests in developmental biology and birth defects. She is board-certified clinician in the fields of Clinical Genetics (ABMGG) and Pediatrics (ABP). Her clinical interests include general clinical genetics, male sex chromosome aneuploidies, genetics of congenital malformations, and genetics of neurodevelopmental disorders. In addition, she has a background in basic science research in developmental biology, specializing in murine models of birth defects. She has a research interest in the genetics of congenital anomalies, especially congenital diaphragmatic hernia (CDH), and currently serves as the lead clinical geneticist at the Pediatric Surgical Research Laboratories at Massachusetts General Hospital and Boston Children’s Hospital as part of a multi-center collaborative study on the genetics of CDH. Dr. High is also the co-director of the MGH Klinefelter syndrome clinic, which is designed to provide multi-specialty clinical care to patients of all ages with Klinefelter syndrome and related sex chromosome variations. She is also an investigator for the Undiagnosed Diseases Network, a multi-center initiative to bring premier clinical expertise, the latest in diagnostic techniques, and interface with researchers to diagnose and learn from the most challenging medical cases.