Stephanie L. Santoro, M.D. is a clinical geneticist focused on Down syndrome.

She is currently available for lectures.

My Background

I’m a pediatrician-trained clinical geneticist, and have devoted my career to the health of individuals with genetic syndromes.  Down syndrome is my primary genetic syndrome of focus and my area of clinical expertise. 

My Education and Academic Positions

B.S., Biology and B.A., Psychology

University of Cincinnati

2001 – 2005

M.D., Doctor of Medicine

University of Cincinnati College of Medicine

2006 – 2009

Pediatrics-Medical Genetics Residency

Cincinnati Children’s Hospital Medical Center

2009 – 2014

Assistant Professor of Pediatrics

Ohio State University College of Medicine

2014 – 2018

Associate Professor of Pediatrics

Harvard Medical School

2024 – Present

Assistant Professor of Pediatrics

Harvard Medical School

2018 – 2024

My Leadership and Committee Work

Board of Directors

Down Syndrome Medical Interest Group (DSMIG-USA)

2020 – Present

Executive Committee

American Academy of Pediatrics, Council on Genetics

2022 – Present

Medical Advisory Board, and Board of Directors

Down Syndrome Association of Central Ohio

2016 – 2018

Board of Directors, and Health Advisory Board of the Medical and Scientific Advisory Committee

Massachusetts Down Syndrome Congress

2018 – Present

I was the co-director of the Adult Down Syndrome Clinic at the Ohio State University previously and currently am the Director of Quality Improvement Research at the Massachusetts General Hospital Down Syndrome Program.  I have specialized training in quality improvement approaches and increasing adherence to guidelines for medical care. 

“What does it mean to be healthy?”

I am a K23 awardee with funding to develop a novel instrument to measure health in Down syndrome.

I’d love to share my knowledge and expertise about Down syndrome.