James A Hendrix, Angelika Amon, Leonard Abbeduto, Stamatis Agiovlasitis, Tarek Alsaied, Heather A Anderson, Lisa J Bain, Nicole Baumer, Anita Bhattacharyya, Dusan Bogunovic, Kelly N Botteron, George Capone, Priya Chandan, Isabelle Chase, Brian Chicoine, Cécile Cieuta-Walti, Lara R DeRuisseau, Sophie Durand, Anna Esbensen, Juan Fortea, Sandra Giménez, Ann-Charlotte Granholm, Laura J Hahn, Elizabeth Head, Hampus Hillerstrom, Lisa M Jacola, Matthew P Janicki, Joan M Jasien, Angela R Kamer, Raymond D Kent, Bernard Khor, Jeanne B Lawrence, Catherine Lemonnier, Amy Feldman Lewanda, William Mobley, Paul E Moore, Linda Pollak Nelson, Nicolas M Oreskovic, Ricardo S Osorio, David Patterson, Sonja A Rasmussen, Roger H Reeves, Nancy Roizen, Stephanie Santoro, Stephanie L Sherman, Nasreen Talib, Ignacio E Tapia, Kyle M Walsh, Steven F Warren, A Nicole White, Guang William Wong, John S Yi
{"title":"Opportunities, barriers, and recommendations in down syndrome research.","authors":"James A Hendrix, Angelika Amon, Leonard Abbeduto, Stamatis Agiovlasitis, Tarek Alsaied, Heather A Anderson, Lisa J Bain, Nicole Baumer, Anita Bhattacharyya, Dusan Bogunovic, Kelly N Botteron, George Capone, Priya Chandan, Isabelle Chase, Brian Chicoine, Cécile Cieuta-Walti, Lara R DeRuisseau, Sophie Durand, Anna Esbensen, Juan Fortea, Sandra Giménez, Ann-Charlotte Granholm, Laura J Hahn, Elizabeth Head, Hampus Hillerstrom, Lisa M Jacola, Matthew P Janicki, Joan M Jasien, Angela R Kamer, Raymond D Kent, Bernard Khor, Jeanne B Lawrence, Catherine Lemonnier, Amy Feldman Lewanda, William Mobley, Paul E Moore, Linda Pollak Nelson, Nicolas M Oreskovic, Ricardo S Osorio, David Patterson, Sonja A Rasmussen, Roger H Reeves, Nancy Roizen, Stephanie Santoro, Stephanie L Sherman, Nasreen Talib, Ignacio E Tapia, Kyle M Walsh, Steven F Warren, A Nicole White, Guang William Wong, John S Yi","doi":"10.3233/trd-200090","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":75246,"journal":{"name":"Translational science of rare diseases","volume":"5 3-4","pages":"99-129"},"PeriodicalIF":0.0000,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4c/14/nihms-1693350.PMC8279178.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Translational science of rare diseases","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3233/trd-200090","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/4/15 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
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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