Opportunities, barriers, and recommendations in down syndrome research
Hendrix, James A. (LuMind IDSC Foundation, Burlington, MA, USA)
Amon, Angelika (Deceased. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge)
Abbeduto, Leonard (Department of Psychiatry and Behavioral Sciences, University of California, Davis)
Agiovlasitis, Stamatis (Department of Kinesiology, Mississippi State University)
Alsaied, Tarek (Cincinnati Children's Hospital Medical Center)
Anderson, Heather A. (The Ohio State University College of Optometry, Columbus)
Bain, Lisa J. (Independent Science Writer, Elverson)
Baumer, Nicole (Boston Children's Hospital (Boston, Estats Units d'Amèrica))
Bhattacharyya, Anita (Department of Cell and Regenerative Biology, School of Medicine and Public Health, University of Wisconsin-Madison, Madison)
Bogunovic, Dusan (Department of Microbiology, Icahn School of Medicine at Mt. Sinai, New York)
Botteron, Kelly N. (Department of Psychiatry, Washington University School of Medicine, St. Louis)
Capone, George (Kennedy Krieger Institute, Baltimore)
Chandan, Priya (Department of Neurosurgery, Division of Physical Medicine and Rehabilitation, University of Louisville School of Medicine)
Chase, Isabelle (Boston Children's Hospital (Boston, Estats Units d'Amèrica))
Chicoine, Brian (Advocate Medical Group Adult Down Syndrome Center, Park Ridge)
Cieuta-Walti, Cécile (Department of Pediatrics, University of Sherbrooke, Quebec)
DeRuisseau, Lara R. (Department of Biological Sciences, Le Moyne College, Syracuse)
Durand, Sophie (Institut Jérôme Lejeune, CRB BioJeL, Paris)
Esbensen, Anna (Cincinnati Children's Hospital Medical Center)
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau)
Giménez, Sandra (Institut d'Investigació Biomèdica Sant Pau)
Granholm, Ann-Charlotte (Karolinska Institutet (Estocolm, Suècia). Department of Neurobiology, Care Sciences and Society)
Hahn, Laura J. (Department of Speech and Hearing Science, University of Illinois Urbana Champaign, Champaign)
Head, Elizabeth (Department of Pathology and Laboratory Medicine, UC Irvine School of Medicine, Orange)
Hillerstrom, Hampus (LuMind IDSC Foundation, Burlington)
Jacola, Lisa M. (St. Jude Children's Research Hospital (Memphis, Estats Units d'Amèrica))
Janicki, Matthew P. (University of Illinois at Chicago, Chicago)
Jasien, Joan M. (Division of Pediatric Neurology, Duke University Health System, Durham)
Kamer, Angela R. (Department of Periodontology and Implant Dentistry, New York University, College of Dentistry)
Kent, Raymond D. (Waisman Center, University of Wisconsin-Madison, Madison)
Khor, Bernard (Benaroya Research Institute at Virginia Mason)
Lawrence, Jeanne B. (Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA; Department of Pediatrics, University of Massachusetts Medical School, Worcester)
Lemonnier, Catherine (Institut Jérôme Lejeune, CRB BioJeL, Paris)
Lewanda, Amy Feldman (Children s National Rare Disease Institute, Children's National Health System, Washington, DC.)
Mobley, William (Department of Neurosciences, University of California, San Diego)
Moore, Paul E. (Division of Allergy, Immunology, and Pulmonology, Vanderbilt University Medical Center, Nashville)
Nelson, Linda Pollak (Harvard School of Dental Medicine, Boston)
Oreskovic, Nicolas M. (Department of Pediatrics, Harvard Medical School, Boston, MA)
Osorio, Ricardo S. (Center for Brain Health, Department of Psychiatry, NYU Langone Medical Center, New York)
Patterson, David (Eleanor Roosevelt Institute, University of Denver, Denver)
Rasmussen, Sonja A. (Department of Pediatrics, University of Florida College of Medicine, Gainesville Professions and College of Medicine, Gainesville)
Reeves, Roger H. (Department of Physiology, Johns Hopkins University School of Medicine, Baltimore)
Roizen, Nancy (Department of Pediatrics, UH/Rainbow Babies and Children's Hospital and Department of Pediatrics, Case Western Reserve University, Cleveland)
Santoro, Stephanie (Massachusetts General Hospital (Boston))
Sherman, Stephanie L. (Department of Human Genetics, Emory University School of Medicine, Atlanta)
Talib, Nasreen (Division of General Pediatrics, Children's Mercy Kansas City, 2401 Gillham Road, Kansas City)
Tapia, Ignacio E. (Children's Hospital of Philadelphia (Pennsilvània))
Walsh, Kyle M. (Division of Neuro-epidemiology, Department of Neurosurgery, Duke University, Durham)
Warren, Steven F. (Institute for Life Span Studies, University of Kansas, Lawrence)
White, A. Nicole (Cincinnati Children's Hospital Medical Center)
Wong, Guang William (Center for Metabolism and Obesity Research, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA)
Yi, John S. (Division of Surgical Sciences, Department of Surgery, Duke University Medical Center, Durham)
Universitat Autònoma de Barcelona

Data:	2021
Resum:	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. 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. 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. 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. 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.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Down syndrome ; Intellectual disability ; Cognitive development ; Autism spectrum disorder ; Obstructive sleep apnea ; Congenital heart disease ; Obesity ; Muscle hypotonia ; Leukemia ; Autoimmune disease ; Periodontitis ; Alzheimer's disease
Publicat a:	Translational science of rare diseases, Vol. 5 (april 2021) , p. 99-129, ISSN 2214-6512

DOI: 10.3233/trd-200090
PMID: 34268067

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