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

Mass General for Children: Genetics Program
55 Fruit St.
Yawkey Center for Outpatient Care
Suite 6C
Boston, MA 02114
Phone: 617-726-1561

Medical Education

  • , Harvard Medical School
  • Fellowship, Boston Children's Hospital

American Board Certifications

  • Clinical Genetics and Genomics, American Board of Medical Genetics and Genomics

Accepted Insurance Plans

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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

  • 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: 67P77
    • 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.

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