Drs. Allie Schwartz and Brian Skotko, co-directors of the Mass General Down Syndrome Program
We are a research team comprised of enthusiastic healthcare providers committed to innovation in Down syndrome research. Our team is motivated to offer research opportunities that can help maximize the life potential for all people with Down syndrome. Working collaboratively with researchers around the globe, we are dedicated to advancing our shared understanding of biological processes associated with Down syndrome. To this extent, we are proud to offer families a portfolio of research opportunities.
Mass General Down Syndrome Program Research Opportunities
To find out more about the research opportunities about Down syndrome available at MassGeneral Hospital, please click on the tab “Research Projects.”
National Down Syndrome Research Resources
To learn more about the latest national efforts related to Down syndrome research, our team recommends the following resources:
We are a collaborative, multidisciplinary team, serving people with Down syndrome of all ages and their families. We provide evidence-based clinical care, education, and cutting-edge research so that individuals with Down syndrome can reach their full potential.
Our passion is to provide healthcare, research, and education that contribute to a world in which all people with Down syndrome are accepted, celebrated and have the opportunity to fully realize their potential.
Eric Macklin, PhD
Senior Clinical Research Coordinator
New Drug Trial Now Available For People with Down Syndrome (ages 12-30)
Currently, Dr. Skotko and his research team are conducting a protocol for a drug that might improve cognitive capacities in some people with Down syndrome. There will be 180 people with Down syndrome who will take part in this study worldwide. This study is being funded by F. Hoffman-LaRoche, the maker of the study drug. The clinical trial will evaluate the effects of the study drug on learning, memory, and language abilities in people with Down syndrome ages 12- 30 years. We are now enrolling interested participants. MassGeneral Hospital has the ability to enroll up to 20 subjects in this study. Currently there are spots available for ages 12-30. Parking will be validated. You will also be compensated up to $750 for your participation.
If you would like your family member to participate in this study, or if you have further questions, please contact: Mary Ellen McDonough,RN, Senior Clinical Research Coordinator in the MassGeneral Hospital Down Syndrome program at, 617-643-5571 or firstname.lastname@example.org.
For more information on this study, please contact:
Down Syndrome Patient Database
All current patients in the Down Syndrome Program at Massachusetts General Hospital are invited to participate in a research project to build a national registry to track the health and medical history of people with Down syndrome across their lives. Health information will be collected from existing and future medical records, so there are no extra study visits or procedures. This Down Syndrome Patient Registry is taking place at Massachusetts General Hospital, as well as other centers specializing in Down syndrome clinical care and research.
Registry Consent Form (pdf)
Ben Majewski, Resource Specialist in the MassGeneral Hospital Down Syndrome Program, tells clinical leaders at a national conference that they should hire a person with Down syndrome.
Profile of Ben Majewski, Self-Advocate Resource Specialist at the Mass General Down Syndrome Program, in the journal "Sindrome de Down: Vida Adulta," from the Fundación Iberoamericana Down 21 in Madrid, Spain. Article is in Spanish.
SudburyPatch article includes mention of the Mass General Down Syndrome Program and Dr. Brian Skotko.
From WCVB-TV, Ch. 5, segment quotes MGHfC physician Brian Skotko, MD, MPP.
From Time Magazine, article quotes MGHfC physician Brian Skotko, MD, MPP.
New numbers show about 4,700 babies are born each year with Down Syndrome. That's down according to Down Syndrome Education USA.
Interview with Dr. Brian Skotko, co-director of the Mass General Down Syndrome Program on FOX25 News.
As prenatal tests proliferate and come earlier, more couples are arriving at a medical crossroads.
The lives of the 250,000 Americans with Down syndrome today are radically different than a generation ago.
After expanding its doors in July of 2012, the Down Syndrome Program has grown to include numerous age-appropriate clinics, experts from Mass General, MGHfC and the Mass Eye and Ear Infirmary, and multidisciplinary care along with state-of-the-art resources to provide seamless transition from pediatric to adult care.
Dr. Schwartz talks about Down Syndrome with the hosts of Your Health® radio, a weekly one-hour radio talk show on patient health produced by the University of North Carolina Department of Family Medicine.
Panel discussions on “Health and wellbeing – Access and equality for all” (on the occasion of World Down Syndrome Day).
Science Magazine article features Dr. Brian Skotko of the Mass General Down Syndrome Program.
Bloomberg article features Dr. Brian Skotko of the Mass General Down Syndrome program.
Wall Street Journal article mentions Mass General Down Syndrome program.
MassGeneral Hospital for Children Grand Rounds are presented every Tuesday morning at 8:00 am in the O'Keeffe Auditorium.
Skotko, B.G., Davidson, E.J., Weintraub, G.S. (2013). Contributions of a specialty clinic for children and adolescents with Down syndrome. American Journal of Medical Genetics, Part A 9999:1-8. Article (pdf).
White, Melissa (2013). Providing Breastfeeding Support in the Hospital Setting for Mothers Who Have Infants With Down Syndrome. ICAN: Infant, Child, & Adolescent Nutrition. Article.
Leach, M., Skotko, B.G. (2012). Resources available for informed prenatal decisions. (Letter to the Editor). Genetics in Medicine: 14:348-349. Letter to the Editor (pdf).
Schwartz, A. (2012) The ins & outs of transition planning. (Article) (pdf)
Skotko, B.G., Leach, M. (2011). Physicians need to offer up-to-date information about Down syndrome to expectant couples to inform decision-making [E-letter]. Pediatrics. October 17, 2011. Letter to the Editor.
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. Article (pdf). Press release.
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. Article (pdf). Press release.
Rosen, D., Lombardo A., Skotko, B., Davidson, E.J. (2011). Parental perceptions of sleep disturbances and sleep-disordered breathing in children with Down syndrome. Clinical Pediatrics, 50:121-125. Article (pdf).
Skotko, B., Kishnani, P., & Capone, G. for the Down Syndrome Diagnosis Study Group (2009). Prenatal diagnosis of Down syndrome: How best to deliver the news. American Journal of Medical Genetics, Part A, 149A: 2361-2367. Article (pdf).Press release (pdf). Summary in Spanish.
Skotko, B., Capone, G., & Kishnani, P. for the Down Syndrome Diagnosis Study Group (2009). Postnatal diagnosis of Down syndrome: Synthesis of the evidence on how best to deliver the news. Pediatrics,124: e751-e758. Article (pdf). Press release (pdf). Summary in Spanish.
Skotko, B. (2009). "Driving Forward." In Thicker than Water: Essays by Adult Siblings of People with Disabilities. Ed. Don Meyer. Bethesda, MD: Woodbine House.
Skotko, B. & Levine S. P. (2009). Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. Bethesda, MD: Woodbine House.
Florez, J. (2007). Knowledge is power. (Article). Journal of the American Medical Association, Vol 298, No.13
Skotko, B. (2007). Letter to the editor: First- and second-trimester evaluation of risk for Down syndrome. Obstetrics and Gynecology, 110: 1426. Article.(pdf)
Skotko, B. (2006). Letter to the editor: A surprising postnatal diagnosis. Obstetrics and Gynecology, 108: 1297. Article (pdf).
Skotko, B., & Levine, P. (2006). What the other children are thinking: Brothers and sisters of persons with Down syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 142C:180-6. Article,(pdf)Press release (pdf).
Skotko, B. (2006). Words matter: The importance of nondirective language in first-trimester assessments for Down syndrome. American Journal of Obstetrics and Gynecology. 195:625-26. Article (pdf).
Skotko, B. (2006). Letter to the editor: Comparing Three Screening Strategies for Combining First- and Second-Trimester Down Syndrome Markers. Obstetrics & Gynecology. 107:1170. Article (pdf).
Skotko, B., Canal, R. (2006). Continuing a Pregnancy After Receiving a Prenatal Diagnosis of Down Syndrome in Spain. Progresos en Diagnostico y Tratamiento Prenatal. 17: 189-92. Article,(pdf)English version (pdf). Survey.(pdf)
Skotko, B. (2005). Prenatally diagnosed Down syndrome: Mothers who continued their pregnancies evaluate their health care providers. American Journal of Obstetrics & Gynecology,192: 670-77. Article,(pdf)Summary,(pdf)Press Release,(pdf)Survey .(pdf)
Skotko, B., & Canal, R. (2004). Apoyo postnatal para madres de niños con síndrome de Down.Revista Síndrome de Down, 21: 54-71. Article (pdf).
Skotko, B. & Kidder C. (2001). Common Threads: Celebrating Life with Down Syndrome.Rochester Hills: Band of Angels Press.
Learn more about the Down Syndrome Program at Mass General, including prenatal services and clinics for infants and toddlers, school-aged children, adolescents and adults.
Gifts from individuals help to support the hospital's three-part mission of innovative research and education in addition to patient care that is second to none.