Research Centers

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Down Syndrome Research Program

We provide innovative opportunities for your child to participate in research.

Photo of Drs. Allie Schwartz and Brian Skotko, co-directors of the Mass General Down Syndrome Program

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:

Clinical trials on Down syndrome 
There are many active clinical trials and research opportunities for people with Down syndrome in the United States. If you are interested in learning more about a particular study, contact the research team associated with that clinical trial.

Down Syndrome Education International 
Professor Sue Buckley of Down Syndrome Education International describes the history of research for individuals with Down syndrome.  She also highlights the importance of biomedical research in people within the Down syndrome community, providing context for the latest clinical trials.

Down Syndrome Research and Treatment Foundation 
a national not-for-profit organization, is dedicated to finding treatments, which might improve the learning, memory, and speech for people with Down syndrome

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 
NICHD is a part of the National Institutes of Health (NIH) and has a long-standing history of funding and supporting research to advance our understandings of Down syndrome.

Research Down Syndrome 
a national not-for-profit organization, supports and funds research dedicated toward developing biomedical therapies to treat cognitive functioning in people of all ages with Down syndrome

Mission Statement

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.

Vision Statement

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.

Photo of the Mass General Down Syndrome Program group members.

Investigators

Brian Skotko, MD, MPP
Allie Schwartz, MD
Jose Florez, MD, PhD
Jessica McCannon MD
Tomi Toler, MS, CGC

Statistician

Eric Macklin, PhD

Senior Clinical Research Coordinator

Mary Ellen McDonough, RN
mmcdonough13@partners.org
617-643-5571

Research Assistant

Christianne Sharr, BA
csharr@partners.org
617-726-1565

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 mmcdonough13@partners.org.

For more information on this study, please contact:

Mary Ellen McDonough, RN
Senior Clinical Research Coordinator
mmcdonough13@partners.org
(617) 643-5571

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)

Christianne Sharr, BA
Research Assistant
csharr@partners.org
(617) 726-1565

Ben Majewski Inspires Down Syndrome Clinics

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.

Ben Majewski: Una vida intensa y plena

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.

Loring School Little Buddy Challenge

SudburyPatch article includes mention of the Mass General Down Syndrome Program and Dr. Brian Skotko.

Down Syndrome: One Family's Decision

From WCVB-TV, Ch. 5, segment quotes MGHfC physician Brian Skotko, MD, MPP.

Will New Mass. Law Discourage Women from Aborting Fetuses with Down Syndrome?

From Time Magazine, article quotes MGHfC physician Brian Skotko, MD, MPP.

Interview: Dr. Brian Skotko

New numbers show about 4,700 babies are born each year with Down Syndrome. That's down according to Down Syndrome Education USA.

Doctors Finding it Easier to Diagnose Down Syndrome

Interview with Dr. Brian Skotko, co-director of the Mass General Down Syndrome Program on FOX25 News.

With Down syndrome diagnoses comes a wrenching choice

As prenatal tests proliferate and come earlier, more couples are arriving at a medical crossroads.

Life with Down syndrome is full of possibilities

The lives of the 250,000 Americans with Down syndrome today are radically different than a generation ago.

A Lifetime of Care at the Down Syndrome Program

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.

Interview: Dr. Allie Schwartz

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.

Down Syndrome Day: Ben Majewski Speaks at UN

Panel discussions on “Health and wellbeing – Access and equality for all” (on the occasion of World Down Syndrome Day).

Can Down Syndrome Be Treated?

Science Magazine article features Dr. Brian Skotko of the Mass General Down Syndrome Program.

IQ-Boosting Drugs Aim to Help Down Syndrome Kids Learn

Bloomberg article features Dr. Brian Skotko of the Mass General Down Syndrome program.

People With Intellectual Disabilities Get a Say in Drug Trials

Wall Street Journal article mentions Mass General Down Syndrome program.

Grand Rounds: Down Syndrome

MassGeneral Hospital for Children Grand Rounds are presented every Tuesday morning at 8:00 am in the O'Keeffe Auditorium.

Photo of a patient of the Mass General Down Syndrome Program.

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.

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.  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).  With new prenatal testing, will babies with Down syndrome slowly disappear? Archives of Disease in Childhood, 94: 823-826.  Article (pdf). Press release with video.

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). Mothers of children with Down syndrome reflect on their postnatal support.Pediatrics. 115: 64-77. Article,(pdf)Summary,(pdf)Press Release,(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. (2005). Postnatal support for mothers of children with Down syndrome.Mental Retardation, 43: 196-212. Article (pdf). Survey.(pdf)

Skotko, B. (2005). Communicating the postnatal diagnosis of Down syndrome: An international call for change. Italian Journal of Pediatrics, 31: 237-243. ArticlePress Release (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.

 

Down Syndrome Research Program

Phone: (617) 643-5571

Public Transportation Access: yes
Disabled Access: yes

Down Syndrome Research Program

Mary Ellen McDonough, RN
Clinical Research Coordinator
mmcdonough13@partners.org
(617) 643-5571

Christianne Sharr, BA
Research Associate
csharr@partners.org
(617) 726-1565

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Down Syndrome Clinical Program

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.

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Support the Down Syndrome Program

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.

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Connect with the Down Syndrome Program

Connect with the Down Syndrome Program via Facebook and Twitter for updates on new programs, events, and more.