Opportunities, barriers, and recommendations in down syndrome research


James A. Hendrix, LuMind IDSC Foundation
Angelika Amon, Massachusetts Institute of Technology
Leonard Abbeduto, UC Davis School of Medicine
Stamatis Agiovlasitis, College of Education
Tarek Alsaied, Cincinnati Children's Hospital Medical Center
Heather A. Anderson, The Ohio State University
Lisa J. Bain, Independent Science Writer
Nicole Baumer, Harvard Medical School
Anita Bhattacharyya, Waisman Center
Dusan Bogunovic, Icahn School of Medicine at Mount Sinai
Kelly N. Botteron, Washington University School of Medicine in St. Louis
George Capone, Kennedy Krieger Institute
Priya Chandan, University of Louisville School of Medicine
Isabelle Chase, Boston Children's Hospital
Brian Chicoine, Advocate Medical Group
Cécile Cieuta-Walti, Université de Sherbrooke
Lara R. Deruisseau, Le Moyne College
Sophie Durand, CRB BioJeL
Anna Esbensen, University of Cincinnati College of Medicine
Juan Fortea, Barcelona Down Medical Center
Sandra Giménez, Hospital de La Santa Creu I Sant Pau
Ann Charlotte Granholm, University of Denver
Laura J. Mattie, University of Illinois Urbana-Champaign
Elizabeth Head, UCI School of Medicine
Hampus Hillerstrom, LuMind IDSC Foundation
Lisa M. Jacola, St. Jude Children's Research Hospital
Matthew P. Janicki, University of Illinois at Chicago
Joan M. Jasien, Duke University Health System
Angela R. Kamer, NYU College of Dentistry
Raymond D. Kent, Waisman Center
Bernard Khor, Research Institute at Virginia Mason
Jeanne B. Lawrence, University of Massachusetts Chan Medical School
Catherine Lemonnier, CRB BioJeL

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Translational Science of Rare Diseases


BACKGROUND: Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical and clinical research but much about DS is still poorly understood. In 2020, the NIH announced their plan to update their DS research plan and requested input from the scientific and advocacy community. OBJECTIVE: The National Down Syndrome Society (NDSS) and the LuMind IDSC Foundation worked together with scientific and medical experts to develop recommendations for the NIH research plan. METHODS: NDSS and LuMind IDSC assembled over 50 experts across multiple disciplines and organized them in eleven working groups focused on specific issues for people with DS. RESULTS: This review article summarizes the research gaps and recommendations that have the potential to improve the health and quality of life for people with DS within the next decade. CONCLUSIONS: This review highlights many of the scientific gaps that exist in DS research. Based on these gaps, a multidisciplinary group of DS experts has made recommendations to advance DS research. This paper may also aid policymakers and the DS community to build a comprehensive national DS research strategy.

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