A new software program effectively brings the expertise of Massachusetts General Hospital (MGH) specialists to many more patients with Down syndrome (DS), according to a study published today in Genetics in Medicine.
Brian Skotko, MD, MPP
Brian Skotko, MD, MPP
Director, Down Syndrome Program
Emma Campbell Endowed Chair on Down Syndrome
Associate Professor, Harvard Medical School
Departments, Centers, & Programs:
55 Fruit Street
Boston, MA 02114-2696
- 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
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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 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 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.
- 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.
- Press Release
- Aug | 10 | 2020
An online portal to connect families and primary care physicians with personalized health and wellness information for their loved one or patient with Down syndrome.
- May | 9 | 2019
This past May marked the 11th anniversary of MGHfC Research Day, an annual event that recognizes the pioneering research of investigators throughout the hospital whose discoveries help to better understand childhood health and disease.
- Jan | 11 | 2019
Research at the Mass General is interwoven throughout more than 30 departments, centers and units and is conducted with the support and guidance of the Mass General Research Institute.