Through working directly with researchers and scientists, the MDSC Medical and Scientific Advisory Council — made up of leaders in the field — selects a number of studies each year that will be made available for the MDSC members to participate in if they so choose.
Each research proposal received is carefully reviewed for content, ethics, and feasibility before forwarding the information onto our members. If approved, the MDSC will develop a study dissemination plan in partnership with the researcher. The MDSC is sensitive to the confidential nature of our membership information and at no time does the MDSC sell or share member information with researchers.
If you are seeking participants for a research project that you would like the MDSC Medical and Scientific Advisory Council to consider, you must submit a proposal that includes the full study and IRB approval to research@mdsc.org.
Brian Skotko, M.D., M.P.P., Chair
A Board-certified medical geneticist and Co-Director of the Down Syndrome Program at Massachusetts General Hospital, Dr. Skotko has dedicated his professional energies toward children with cognitive and development disabilities. In 2001 he co-authored the national award-winning book, Common Threads: Celebrating Life with Down Syndrome and, most recently, 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. Dr. Skotko recently authored major research on how physicians deliver a diagnosis of Down syndrome to new and expectant parents. 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 serves on the Honorary Board of Directors for the Massachusetts Down Syndrome Congress, the Board of Directors for the Band of Angels Foundation, and the Professional Advisory Committee for the National Center for Prenatal and Postnatal Down Syndrome Resources.
Nicole Baumer, M.D.
Dr. Nicole Baumer is a neurodevelopmental disabilities (NDD) pediatrician/ child neurologist at Boston Children’s Hospital and an instructor at Harvard Medical School. Dr. Baumer completed her undergraduate studies in biology and psychology at Skidmore College. She received her Medical Degree cum laude from Harvard Medical School. She trained in pediatrics at Massachusetts General Hospital, and completed a fellowship in Neurodevelopmental Disabilities at Boston Children’s Hospital. Dr. Baumer also has a Masters degree in education from Harvard Graduate School of Education. She was a fellow in the Leadership Education in Neurodevelopmental and Related Disorders (LEND) program at BCH/Harvard Medical School. In January 2015, Dr. Baumer became Co-Director of the Down Syndrome Program at Boston Children’s, where she has been seeing patients since 2011. Dr. Baumer has training in both child neurology and developmental and behavioral pediatrics and is board certified in child neurology and pediatrics. Dr. Baumer sees patients in the Neurology Department and in the Developmental Medicine Center at Boston Children’s Hospital. She specializes in the treatment of individuals with Down syndrome, intellectual disability, autism, and neurobehavioral disorders. Dr. Baumer’s research involves characterization of medical, developmental, and behavioral profiles of children with Down syndrome, and understanding neurological differences in children with and without comorbid neurodevelopmental disorders, such as autism spectrum disorder. She also studies educational, behavioral, and medical interventions to improve cognition and developmental outcomes. Dr. Baumer has an older sister with Down syndrome.
Brian L. Cruz, M.D.
Brian Cruz, M.D. is the attending physician, Department of Emergency Medicine at Winchester Hospital. He holds a BA in Psychology from University of Redlands, in Redlands CA. He completed medical school and his internship at University of of Colorado. He was a research fellow at Department of Emergency Medicine at Harbor-UCLS, in Torrance, CA. Cruz’s residency in Emergency Medicine was at Cooper Hospital, UMDNJ in Camden, NJ. Before Winchester Hospital, Cruz was the CEO of Expert Exams, Inc. in Los Angeles, CA. Dr. Cruz was a Buddy Walk co-chair for 3 years and serves on the Honorary Board of Directors of the Massachusetts Down Syndrome Congress. Dr. Cruz has a son with down syndrome.
Emily Jean Davidson, M.D., M.P.H.
Emily Jean Davidson, M.D., M.P.H. is the Director of the Down Syndrome Program at Children’s Hospital Boston. She holds a bachelor’s degree from Harvard-Radcliffe College, an MD from Yale School of Medicine and an MPH from Harvard’s School of Public Health. She completed her internship and residency in pediatrics at Children’s Hospital Boston and stayed at Children’s to complete fellowship in Developmental Behavioral Pediatrics. She is an instructor at Harvard Medical School and is board certified in General Pediatrics and Neurodevelopmental Pediatrics. Dr. Davidson’s clinical work focuses on children with special health care needs and developmental disabilities and she has worked in a wide range of clinical settings including the cerebral palsy clinic, the Cotting school, Perkins school for the Blind, the Children’s Extended Care Center (now Seven Hills) and the Complex Care Service inpatient and outpatient settings as well as the Developmental Medicine Center. She is an attending physician in the Complex Care Service and also serves as Medical Director for the Pediatric Community Medical Alliance’s Special Kids, Special Care program for children with complex needs in foster care. Her research interests focus on coordination of care for children with complex needs, respite for families and increasing physical activity for children with special health care needs and disabilities, particularly those from underserved populations.
Mark Friedberg, MD, MPP
Mark Friedberg, MD, MPP is a general internist who provides primary care at Brigham and Women’s Hospital, where he completed his residency and fellowship. Mark has an M.D. from Harvard Medical School, M.P.P. from the Harvard Kennedy School of Government, and B.A. from Swarthmore College. He is senior vice president of performance measurement and improvement at Blue Cross Blue Shield of Massachusetts and an assistant professor of medicine, part time, at Harvard Medical School. Before joining BCBSMA in 2019, Dr. Friedberg was a health services researcher and director of the Boston office of RAND, where he led multiple projects to measure, evaluate, and improve health system performance. Dr. Friedberg has a son with Down syndrome.
Richard Fleming Ph.D.
Dr. Fleming conducts research on lifestyle change to prevent and treat childhood obesity, and increase physical activity and fitness, with special emphasis on adolescents with intellectual and developmental disabilities. His recent NIH-funded research projects have included an investigation of the effects of family-based behavioral intervention to promote weight loss and weight maintenance in adolescents with Down syndrome (DS), a community-based participatory research study to increase moderate-to-vigorous intensity physical activity in adolescents with autism spectrum disorder, and a comprehensive YMCA-based exercise program to increase fitness in adolescents with DS. In addition, he also conducts NIH-funded research and development on distance learning options for oral health professionals seeking to learn more about serving patients with developmental disabilities. He has served on numerous national advisory boards and research consensus panels in the areas of childhood health and intellectual disabilities.
Beverly Hay, M.D., FACMG
Dr. Hay received her MD at Jefferson Medical College, trained in Pediatrics at Strong Memorial Hospital/University of Rochester and obtained her specialty training in Genetics at the National Institutes of Health. She came to UMass Memorial Healthcare in 2003 as a clinical geneticist, and became Chief of the division in 2006. In addition to patient care, Dr. Hay has served in several educational roles at UMMS, and was the medical director of a regional genetic counseling training program. She works with providers across departments to deliver comprehensive coordinated of care within different disciplines.
Susan Kornetsky, M.P.H.
Susan Kornetsky is the Director of Clinical Research Compliance at Children’s Hospital in Boston. For over 30 years, her responsibilities include directing an IRB administrative office, educating principal investigators regarding IRB regulations, assisting investigators with protocol development, assuring institutional compliance with all federal and state regulations pertaining to human research, establishing appropriate policies and procedures and overseeing a quality improvement program for human research protections. Her education includes a BA in Biology from Brandeis University, and a Masters of Public Health from Boston University. In May of 2101 she completed a Medical Ethics Fellowship at Harvard Medical School. Ms. Kornetsky is a past appointed member of the Secretary’s Advisory Committee on Human Research Protections (SACHRP) and was co-chair of the SACHRP Subcommittee on Children. She currently serves on the Subpart A subcommittee of SACHRP. She is a past member, appointed by the Secretary of HHS, of the National Human Research Protection Advisory Committee. She is a past Board member of the Association for the Accreditation of Human Research Programs (AAHRP. She was a member of the Institute of Medicine’s Committee on Clinical Research Involving Children. Ms. Kornetsky is currently the Chair of the Board of Directors for PRIM&R’s ( public Responsibility In Research and Medicine . She was a member on the Council for Certification of IRB Professionals (CCIP) and as a Council co-chair. She is faculty for the Harvard Medical School office of Global Education and lectures for programs in London, Portugal and Turkey as well as at at many national meetings conferences and educational programs, She serves as a consultant on an Office of Protection from Research Risks (OPRR) site visit team. She has a nephew with Down syndrome.
James Kryzanski, M.D.
James Kryzanski, M.D., is the Assistant Professor of Neurosurgery and Chief of Epilepsy Surgery at Tufts University School of Medicine. He completed his education and post graduate training at Albany Medical College where he was Summa Cum Laude. He was an Intern in Surgery at Beth Israel Deaconess Medical Center, Boston, MA and a Resident in Neurosurgery, Tufts University School of Medicine and Tufts Medical Center. He completed his Fellowship in Epilepsy Surgery at Yale University and Skull Base Surgery at University of Tennessee. His specialties include Skull Base Surgery: Meningiomas, Vestibular Schwannoma, Minimally Invasive Pituitary Surgery, Minimally Invasive Spinal Fusion, Surgery for Intractable Epilepsy and Neurovascular Surgery. Dr. Kryzanski serves on the Honorary Board of Directors of the Massachusetts Down Syndrome Congress. Dr. Kryzanski has a son with Down syndrome.
Kevin Mills, Ph.D
Kevin Mills, Ph.D. is a molecular biologist and geneticist. He received his Ph.D. from MIT and completed a postdoctoral fellowship at Harvard Medical School, working in the areas of hematology and oncology. Dr. Mills was previously an Associate Professor at the Jackson Laboratory, a non-profit biology and biomedical research institution with campuses in Maine, Connecticut, and California. Dr. Mills is also a former scientific advisor and ex-board member for the Maine Cancer Foundation. He has investigated the molecular and genetic bases for rare blood disorders, severe immunodeficiencies, and cancers of the blood. Dr. Mills cofounded, and was Chief Scientific Officer, of a Lexington (MA) biotechnology company, Cyteir Therapeutics, which is developing novel anti-cancer therapeutics based on the biology of DNA repair. He is currently Senior Vice President at Civetta Therapeutics. He has a teenage son with Down Syndrome, who is a huge fan of baseball and superheroes.
Julie Moran, M.D.
Dr. Moran is a board-certified geriatrician/internist specializing in older adults with intellectual and developmental disability (I/DD). She is on staff at Tewksbury Hospital, where she serves as an inpatient consultant for adults with I/DD and also runs a busy statewide outpatient consultation service for older adults with I/DD through the support of the Massachusetts Department of Developmental Services (DDS). Dr. Moran is a Clinical Instructor of Medicine at Harvard Medical School and participates in the teaching and training of geriatric medicine, psychiatry, and dental fellows. She is a 2001 graduate of the University of Medicine and Dentistry of New Jersey School of Osteopathic Medicine. After completing her residency in Primary Care Internal Medicine at the University of Connecticut, she completed a two year fellowship in Geriatric Medicine at Harvard Medical School/Beth Israel Deaconess Medical Center in Boston, MA. She is a 2006 graduate of the Leadership Education in Neurodevelopmental and Related Disabilities (LEND) fellowship program at the Shriver Center/UMASS Medical School in Waltham, MA. Dr. Moran was on faculty in the Gerontology Division at BIDMC from 2006 to 2013, where she founded and ran the Aging and Developmental Disabilities Clinic at BIDMC SeniorHealth. From 2007 to 2010, she held a Geriatric Academic Career Award for her work in education and curriculum development in the field of aging and I/DD. In 2008 she was awarded the “Provider of the Year” award from Growthways, Inc., a community supports agency in Brockton, MA. In 2015 she was awarded the “Excellence in Service” award from Bridgewell, a community supports agency that serves the North Shore. Dr. Moran has been involved in several statewide and national initiatives related to aging and I/DD and was the lead author a consensus guidelines paper on I/DD and dementia published in the Mayo Clinic Proceedings in 2013 and the publication “Aging and Down Syndrome” produced through the National Down Syndrome Society (NDSS) in 2013. She is lead author for a second publication through the NDSS focusing on caregiving for adults with Down syndrome and dementia, due out in 2017. Dr. Moran has spoken extensively on a variety of topics related to older adults with I/DD.
Errol Mortimer, M.D.
Dr. Errol Mortimer has been working as a pediatric orthopedic surgeon at UMass Memorial Medical Center since 1995. He grew up in Montreal, Canada, where he received his MD from McGill University Medical School and then continued at McGill for his orthopedic residency. He performed fellowships in Pediatric Orthopedics at Ste. Justine Children’s Hospital in Montreal, and at the Hasbro Children’s Hospital in Providence, Rhode Island. He did an additional fellowship in pediatric and post-traumatic deformity correction in Baltimore, Maryland. At UMass, Dr. Mortimer has teamed up with the pediatric genetics team and has codirected a multi-disciplinary orthopedic-genetics clinic that is the only one of its kind in New England. There, children with a spectrum of rare and uncommon conditions present for diagnosis and treatment. His other clinical interests include the full complement of pediatric orthopedic conditions including congenital and developmental problems of bones, joints and spine, as well as pediatric injuries and fractures.
Nicolas Oreskovic, M.D., M.P.H.
Dr. Oreskovic is an internist and pediatrician, and clinical researcher. He is the Medical Director for the Integrated Care Management Program at Massachusetts General Hospital, and is an Assistant Professor of Pediatrics at Harvard Medical School. He cares for patients of all ages in his primary care practice, as well as, adults with Down syndrome in the MGH Down Syndrome Program. His research interests include physical activity and other health behaviors, chronic disease prevention and management, using technology to improve health behaviors and health care delivery, and understanding how the built environment, including architecture and urban planning, can affect individual and population health. He has received federal funding as well as foundation grants to conduct research and has authored over thirty peer reviewed scientific publications. Dr. Oreskovic received his bachelor’s degree from McGill University in Montreal, Canada, attended medical school at The University of Rochester School of Medicine and Dentistry in Rochester, New York, trained in Internal Medicine and Pediatrics at Mount Sinai Hospital in New York City, completed a fellowship in Health Services Research at Harvard Medical School, and earned a Masters in Public Health from the Harvard School of Public Health.
Serguei Roumiantsev, M.D., Ph.D.
Dr. Sergei Roumiantsev is a neonatologist at Massachusetts General Hospital. He is Assistant in Pediatrics at Massachusetts General Hospital and Instructor in Pediatrics at Harvard Medical School. He is currently a Medical Director of Neonatology, Massachusetts General Hospital for Children and co-director of Partners Neonatal Transport program. His current research interest is focused on improving care and outcomes of premature infants. Dr. Roumuantsev graduated from Russian State Medical University in 1994 and did his postgraduate training in Russia. He finished his pediatric residency and fellowship in Pediatric Oncology/Hematology in Russian Pediatric Hematology Research Institute, Russian State Children’s Hospital. He moved to the United States in 1998 to join the research project on molecular aspects of leukemia at Harvard Medical School/Center for Blood Research. He remained a postdoctoral fellow there from 1998 till 2002. In 2002 he entered Boston Combined Residency in Pediatrics. He worked as hospitalist in Children’s Hospital Boston, NICU from 2004-2005. He continued his training in the Harvard Neonatal-Perinatal fellowship program from 2005-2008 where he served as a Chief Fellow from 2007- 2008. As a part of his fellowship, he did research in laboratory of Dr. Stuart Orkin in Children’s Hospital Boston and Dana Farber Cancer Institute. His research was focused on understanding genetic mechanism of early embryonic development. After graduation from his fellowship, Roumiantsev accepted a position at MGH for Children. Dr. Roumiantsev has a daughter with Down syndrome.
Eric Rubenstein, PhD, ScM
Dr. Rubenstein is an Assistant Professor in the Department of Epidemiology at the Boston University School of Public Health. He received his PhD in epidemiology from the University of North Carolina Gillings Schools of Public Health and his ScM in epidemiology from the Johns Hopkins Bloomberg School of Public health. Dr. Rubenstein completed post-doctoral fellowships in Intellectual and Developmental Disability research and Family Medicine and Community Health at the University of Wisconsin-Madison. His research focuses on improving health and well-being in the population with intellectual and developmental disabilities (IDD), including Down syndrome, across the life course. Dr. Rubenstein has received funding from Autism Speaks, the Eunice Kennedy Shriver National Institutes of Child Health and Human Development, and the Centers for Disease Control and Prevention. He is a devoted Special Olympics coach, having coached nearly every sport in his 20+ years of volunteering. Dr. Rubenstein’s research is motivated and continually inspired by his friends, Special Olympic athletes, and fellow advocates in the IDD and Down syndrome community.
Stephanie Santoro, M.D.
Stephanie L. Santoro, MD, a board-certified pediatrician / clinical geneticist and an Assistant in Pediatrics at Harvard Medical School, has focused her career on improving medical care for individuals with Down syndrome through quality improvement techniques and established guidelines. She is a graduate of the University of Cincinnati and the University of Cincinnati College of Medicine. She completed a five-year combined pediatrics/medical genetics residency at Cincinnati Children’s Hospital Medical Center. As an attending geneticist in Columbus, OH, she helped re-launch the adult Down syndrome clinic at Ohio State University, developed a genetics presence at the Nationwide Children’s Hospital Down syndrome clinic and worked with the clinic teams to make improvements to those clinics. At MGH, she provides medical care to individuals with Down syndrome across the lifespan in the MGH Down Syndrome Program: from prenatal diagnosis through adulthood. She participates in clinical research and is launching quality improvement initiatives. Dr. Santoro has served on the Down Syndrome Association of Greater Cincinnati’s health advisory board, the Down Syndrome Association of Central Ohio’s governing board and founded the medical advisory committee. Dr. Santoro has been invited to speak locally, regionally and nationally on topics including: medical care for Down syndrome, best practice in delivering a diagnosis of Down syndrome and EHR–integration. She conducts research focused on aspects of health in Down syndrome, adherence to the American Academy of Pediatrics guidelines and successful methods to improve adherence.
