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
Roche: Screening Protocol for a Drug that Might Improve Cognitive Capacities in People with Down Syndrome
A limited number of spots, available on a first-come basis, are available to eligible adults with Down syndrome who would like to secure their participation in an upcoming clinical trial. While the clinical trial is expected to take place later this year, we are screening people with Down syndrome right now at MassGeneral Hospital. The purpose of this screening protocol is to identify around 230 people with Down syndrome from around the world who will take part in the full clinical trial.
This study is being funded by F. Hoffman-LaRoche, the maker of the study drug in the upcoming study. The upcoming clinical trial will evaluate the effects of their study drug on learning, memory, and language abilities in people with Down syndrome.
The screening process will take place on a first-come/first-serve basis. To see if your family member is eligible to take part in this study, please review these questions first. If you would like your family member to participate in this study, or if you have further questions, please contact Mary Ellen McDonough, Senior Clinical Research Coordinator in the MassGeneral Hospital Down Syndrome Program, at 617-643-5571 or email@example.com.
Consent Form (pdf)
Elan: Clinical Trial to Evaluate the Safety of the Study Drug and the Way It Works in the Body with the Possibility of Improved Cognitive Capacities in People with Down Syndrome
Dr. Brian Skotko and his research team from the MassGeneral Hospital Down Syndrome Program are starting to offer another drug trial. In this clinical trial, an investigational medicine, not yet approved for sale by the FDA, will be studied in people with Down syndrome who meet eligibility criteria. This drug is hoped to improve the cognitive capacities in some people with Down syndrome.
The study is being funded by Elan Pharma International Ltd., the developer of the study drug used in this study. The clinical trial will evaluate the effects of their study drug on learning, memory, and language abilities in people with Down syndrome.
There are a limited number of spots for this clinical trial, and eligible patients are screened in the order in which they contact us. The study take place over a period of 10 weeks, and it will include 5 visits to the clinic.
To see if your family member is eligible to take part in the, please review the questions here.
Caregivers Consent Form (pdf)
Young Adult Consent Form (pdf)
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)
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.
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.
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).
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.