A Board-certified medical geneticist and Co-Director of the Down Syndrome Program at Massachusetts General Hospital, Dr. Skotko has dedicated his professional energies toward children with cognitive and development disabilities. In 2001 he co-authored the national award-winning book, Common Threads: Celebrating Life with Down Syndrome and, most recently, Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. He is a graduate of Duke University, Harvard Medical School, and Harvard Kennedy School. Dr. Skotko recently authored major research on how physicians deliver a diagnosis of Down syndrome to new and expectant parents. He has been featured in The Wall Street Journal, The New York Times, The Washington Post, The L.A. Times, NPR’s “On Point,” and ABC’s “Good Morning America.” Dr. Skotko serves on the Honorary Board of Directors for the Massachusetts Down Syndrome Congress, the Board of Directors for the Band of Angels Foundation, and the Professional Advisory Committee for the National Center for Prenatal and Postnatal Down Syndrome Resources.

Questions being addressed in the lab

  1. Can we build a virtual clinic to ensure that all people with Down syndrome have access to quality medical information?
  2. Can we predict obstructive sleep apnea in patients with Down syndrome using less invasive, more cost effective means?
  3. Can we help adults with Down syndrome make healthier decisions when dining out on their own?

Projects underway to answer these questions

  1. We were awarded a PCORI grant to build a virtual Down syndrome clinic and test in a randomized control trial.

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  3. We were awarded a grant to investigate a combination of factors which might predict if a patient with Down syndrome has obstructive sleep apnea.

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  5. We are working with a team of computer engineers to design a mobile app to assist people with Down syndrome making healthy decisions when they are out to eat.

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Answers Found

  1. All of the above are in progress.

Highlighted Publications from the lab


Estimation of the number of people with Down syndrome in the United States
September, 2016