Hamlett Eric D, Flores-Aguilar Lisi, Handen Benjamin, Potier Marie-Claude, Granholm Ann-Charlotte, Sherman Stephanie, Puig Victoria, Santoro Jonathan D, Carmona-Iragui María, Rebillat Anne-Sophie, Head Elizabeth, Strydom André, Busciglio Jorge
Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina, USA.
Department of Anatomy and Cell Biology, McGill University, Montreal, Québec, Canada.
Mol Syndromol. 2023 Apr;14(2):89-100. doi: 10.1159/000526021. Epub 2022 Nov 11.
Research focused on Down syndrome continued to gain momentum in the last several years and is advancing our understanding of how trisomy 21 (T21) modifies molecular and cellular processes. The Trisomy 21 Research Society (T21RS) is the premier scientific organization for researchers and clinicians studying Down syndrome. During the COVID pandemic, T21RS held its first virtual conference program, sponsored by the University of California at Irvine, on June 8-10, 2021 and brought together 342 scientists, families, and industry representatives from over 25 countries to share the latest discoveries on underlying cellular and molecular mechanisms of T21, cognitive and behavioral changes, and comorbidities associated with Down syndrome, including Alzheimer's disease and Regression Disorder. Presentations of 91 cutting-edge abstracts reflecting neuroscience, neurology, model systems, psychology, biomarkers, and molecular and pharmacological therapeutic approaches demonstrate the compelling interest and continuing advancement toward innovating biomarkers and therapies aimed at ameliorating health conditions associated with T21.
在过去几年中,针对唐氏综合征的研究持续升温,正推动我们对21三体(T21)如何改变分子和细胞过程的理解。21三体研究协会(T21RS)是研究唐氏综合征的研究人员和临床医生的首要科学组织。在新冠疫情期间,T21RS于2021年6月8日至10日举办了其首个虚拟会议项目,该项目由加州大学欧文分校赞助,汇聚了来自25多个国家的342位科学家、患者家属和行业代表,分享了关于T21潜在细胞和分子机制、认知和行为变化以及与唐氏综合征相关的合并症(包括阿尔茨海默病和退行性疾病)的最新发现。91篇前沿摘要的展示反映了神经科学、神经病学、模型系统、心理学、生物标志物以及分子和药物治疗方法,证明了人们对创新生物标志物和疗法的浓厚兴趣以及在改善与T21相关健康状况方面的持续进展。