About Brian Skotko, MD, MPP

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Brian Skotko, MD, MPP, a Board-certified medical geneticist, has dedicated his professional energies toward children with cognitive and developmental disabilities. In 2001 he co-authored two national award-winning books. He received the Christian Pueschel Memorial Research Award for his pioneering research and has been featured guest on multiple TV and radio news shows.

Departments, Centers, & Programs:

Clinical Interests:

Treats:

Locations

Pediatric Genetics
55 Fruit Street
Boston, MA 02114-2696
617-643-8912
Fax: 617-726-4148

Medical Education

  • MD, Harvard Medical School
  • MPP, Harvard University Kennedy School of Government
  • Residency, Boston Medical Center
  • Fellowship, Boston Children's Hospital

American Board Certifications

  • Clinical Genetics (M.D.), American Board of Medical Genetics

Accepted Insurance Plans

Note: This provider may accept more insurance plans than shown; please call the practice to find out if your plan is accepted.


Research

View my most recent research

A Board-certified medical geneticist, Dr. Skotko is the Emma Campbell Endowed Chair on Down Syndrome at Massachusetts General Hospital.  As the Director of the hospital’s Down Syndrome Program, he has dedicated his professional energies toward children with cognitive and development disabilities. He co-authored the national award-winning books, Common Threads: Celebrating Life with Down Syndrome and 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, and he is currently an Associate Professor at Harvard Medical School. Dr. Skotko is  a leader on clinical and translational research about Down syndrome. He has been featured in The Wall Street JournalThe New York TimesThe Washington PostThe L.A. Times, NPR’s “On Point,” and ABC’s “Good Morning America.” Dr. Skotko has a sister with Down syndrome and serves on the Honorary Board of Directors for the Massachusetts Down Syndrome Congress.

Publications

  • View my most recent publications at PubMed

    Select Publications:

    • Skotko, B. (2005).  Prenatally diagnosed Down syndrome:  Mothers who continued their pregnancies evaluate their health care providers.  American Journal of Obstetrics & Gynecology, 192: 67P 77
    • Skotko, B.G., Levine, S.P., Goldstein, R. (2011).  Having a Son or Daughter with Down Syndrome: Perspectives from Mothers and Fathers.  American Journal of Medical Genetics Part A 155:2335-2347.
    • Skotko, B.G., Levine, S.P., Goldstein, R. (2011). Having a Brother or Sister with Down Syndrome: Perspectives from Siblings. American Journal of Medical Genetics Part A: 155:2348-2359.
    • Skotko, B.G., Levine, S.P., Goldstein, R. (2011).  Self-perceptions from People with Down Syndrome. American Journal of Medical Genetics, Part A: 155:2360-2369.
    • Lavigne J, Sharr C, Elsharkawi I, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier K, Sparks S, Stock-Guild K, Toler T, Vellody K, Voelz L, Skotko B. (2017). Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. American Journal of Medical Genetics Part A, 173A:1539-1545. 
    • Elsharkawi I, Gozal D, Macklin EA, Voelz L, Weintraub G, Skotko BG. (2017). Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome.  Sleep Medicine, 34:84-89.