About Brian Skotko, MD, MPP

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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 a 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 Journal, The New York Times, The Washington Post, The 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.

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

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

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


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.

Reviews: Comments and Ratings

5.0out of 5(33 Ratings, 16 Comments)

December 2024

A positive and helpful experience


November 2024

he is amazing, he cares and he is so attentive with his patients I love to have him as my daughter doctor and his team I like the way they work as a team they're all in the same page [redacted]


November 2024

Dr skotko is an amazing person and doctor, it's always a pleasure to see him


September 2024

Excellent.


September 2024

Dr. Skotko provides exceptional care and we are super pleased with every appointment we go to with him. So, thank you. Always the best.


September 2024

Always so informative


September 2024

My son, as the best geneticist you could ask for, Dr. Skotko is incredible. He's kind and generous and giving and loving and knowledgeable and open and honest and we couldn't be more happy with being at the DS Clinic at Mass General.


September 2024

Very professional and easy to relate to. Shows genuine concern for my daughter and myself. Didn't have to wait to be seen which is always nice!


September 2024

He is AMAZING. Always very thorough and very knowledgeable about Down syndrome


August 2024

He listens and is caring and seems to know all of his patients very well

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