Focus Areas in the Genomic Medicine Cycle
Major leadership positions

Emma Campbell Endowed Chair on Down Syndrome & Director, Down Syndrome Program

MGH Unit(s)

Division of Medical Genetics, Department of Pediatrics

MGH Dept/Division/Unit(s)

Medical Genetics, Pediatrics


We are a research team composed 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.

Priority Projects

  1. Developing a Down Syndrome Health Instrument. Although over 200,000 individuals with Down syndrome live in the United States, studies to date have focused on outcomes apart from health. We need to accurately measure the health of all individuals with DS – and there are not similar tools for this population available. Creating such an instrument will provide a barometer of the current state of health for DS and hold use in future research. We are creating an instrument that directly assesses health in DS – the Down syndrome Health Instrument (DHI).
  2. Longitudinal Investigation for the Enrichment of Down Syndrome Research (LIFE-DSR). LIFE-DSR is a natural history study that aims to better understand the progression of Alzheimer’s disease in those with Down syndrome. The study will examine behavioral, cognitive, and health changes that occur over 2-3 years, with a focus on how these changes relate to the development of Alzheimer’s dementia. Alzheimer’s disease is an important topic in the DS community because by the age of 60 about 70% of those with DS will develop Alzheimer’s dementia. The goal here is to gather information to develop tools to aid in measuring and testing for Alzheimer’s disease in those with Down syndrome.
  3. 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 an international 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 around the United States and the world that specialize in Down syndrome clinical care and research.
  4. Effects of Hypoglossal Nerve Stimulation on Cognition & Language in Down Syndrome. We are studying new ways to treat obstructive sleep apnea in children and young adults with Down syndrome who have persistent obstructive sleep apnea despite prior tonsillectomy. We will be researching how placement of an investigational surgically implanted nerve stimulator for the purpose of treating severe obstructive sleep apnea (OSA) improves the neurocognition and expressive language skills in children with Down syndrome, ages 10-21. This therapy has already been tested and approved by the FDA for use in adults meeting specific requirements.

Lab Members

Stephanie Santoro, MDSsantoro3 [@] mgh.harvard.eduPrimary Investigator
Amy Torres, BSaetorres [@] partners.orgProgram Manager
Sajani Clerk, BAsclerk [@] mgh.harvard.eduClinical Research Coordinator
Nicolas Oreskovic, MD, MPHnoreskovic [@] mgh.harvard.eduPrimary Investigator
Clo Cottrell, MS, LICSWccotrell [@] mgh.harvard.eduSocial Worker
Dominica Nichols, PhD, RD, LDNDnichols5 [@] mgh.harvard.eduDietitian
Lab/Contact Telephone




Primary Email
Lab Website