Stephanie L Santoro, MD

Stephanie L. Santoro, MD, a board-certified pediatrician / clinical geneticist and an Assistant in Pediatrics at Harvard Medical School, has focused her career on improving medical care for individuals with Down syndrome through quality improvement techniques and established guidelines. She is a graduate of the University of Cincinnati and the University of Cincinnati College of Medicine. She completed a five-year combined pediatrics/medical genetics residency at Cincinnati Children’s Hospital Medical Center. As an attending geneticist in Columbus, OH, she helped re-launch the adult Down syndrome clinic at Ohio State University, developed a genetics presence at the Nationwide Children’s Hospital Down syndrome clinic and worked with the clinic teams to make improvements to those clinics. At MGH, she provides medical care to individuals with Down syndrome across the lifespan in the MGH Down Syndrome Program: from prenatal diagnosis through adulthood. She participates in clinical research and is launching quality improvement initiatives.

Dr. Santoro has served on the Down Syndrome Association of Greater Cincinnati’s health advisory board, the Down Syndrome Association of Central Ohio’s governing board and founded the medical advisory committee.

Dr. Santoro has been invited to speak locally, regionally and nationally on topics including: medical care for Down syndrome, best practice in delivering a diagnosis of Down syndrome and EHR integration. She conducts research focused on aspects of health in Down syndrome, adherence to the American Academy of Pediatrics guidelines and successful methods to improve adherence.