2023 International Mosaic Down Syndrome Association Community-Empowered Research and Retreat Weekend: Increasing Partnerships, Cohorts, and Diversity for Research Related to Down Syndrome

项目总结 2023年国际马赛克唐氏综合症协会社区赋权研究和务虚会 周末：增加唐氏综合症相关研究的伙伴关系、队列和多样性“会议 将于2023年7月27日至30日在加利福尼亚州圣地亚哥举行。这一独特的会议重点是提供 为马赛克唐氏综合症患者提供的信息、资源、支持和研究机会 (MDS)。大约2%到4%的唐氏综合征(DS)患者有嵌合体。大多数患有MDS的人 有两种类型的细胞：一种是具有21三体失衡的细胞；另一种是具有典型(二体)染色体的细胞 化妆。考虑到马赛克主义并不常见，MDS患者及其家人 与其他有相同诊断的人接触，并且经常被拒绝访问资源或研究 机遇。为了满足这种包容的需要，本次会议的一个目标是分享有关MDS/D的知识 在一个社区的研究人员、临床医生、自我倡导者和父母/护理提供者的不同群体中- 被赋予权力的方式。为了实现这一目标，思想领袖致力于提供教育、临床和 与MDS/D相关的研究机会将与拥有MDS/D的自我倡导者分享知识 家庭成员。他们还将与彼此和受训人员分享想法，以创建新的研究途径和 建立/扩大专业人员与MDS/DS社区人员之间的伙伴关系。重要的是，通过 讨论加强少数群体参与我们的MDS/DS支助的战略 团体、研究和实习生人才库，这次会议将作为扩大多样性的渠道，目标是 提高生活质量和缩小所有种族和地区人民所经历的医疗保健差距 患有MDS或DS的种族。之所以选择这个地点，部分原因是它具有丰富的多样性，因此 促进来自少数群体的新参与者的出席。这次会议的第二个目标是促进 通过扩展可与唐氏综合症共享的数据和生物样本进行临床和基础研究 社区，并通过加强队列发展。这一目标将使用一种新的方法来实现，其中 自我倡导者及其家人直接参加他们感兴趣的研究项目或咨询， 在对参与者最方便的环境中。通过设计创新、合作的流程 标本收藏，这次会议将提供一个与Down分享研究标本/数据的论坛 通过Data Hub和门户以及其他存储库(NMASKK、Emory、 &人类三体计划)致力于资源共享。几位预期的与会者已经 在他们的生命周期内(2到30年以上的跟踪数据)参与了NMASKK存储库， 本次会议为纵向数据收集提供了独特的场所.因为患有MDS的人会获得同样的 非马赛克氏病患者的健康/行为状况的格式塔，其生物标志物的比较 等基因三体/二体细胞可能有助于揭示21三体相关结果的生物学复杂性。

PROJECT SUMMARY The “2023 International Mosaic Down Syndrome Association Community-Empowered Research and Retreat Weekend: Increasing Partnerships, Cohorts, and Diversity for Research Related to Down Syndrome” meeting will be held July 27 – 30, 2023 in San Diego, California. This unique conference focuses on providing information, resources, support, and research opportunities for people who have mosaic Down syndrome (mDs). Approximately 2% to 4% of people with Down syndrome (Ds) have mosaicism. Most people with mDs have two types of cells: those with a trisomy 21 imbalance; and cells with a typical (disomy) chromosomal make-up. Given that mosaicism is uncommon, people with mDs, and their family members, have limited exposure to others who share this diagnosis, and are often denied access to resources or research opportunities. To meet this need for inclusion, one aim for this conference is to share knowledge about mDs/Ds among a diverse group of researchers, clinicians, self-advocates, and parents/care providers in a community- empowered manner. To accomplish this aim, thought leaders devoted to providing educational, clinical, and research opportunities related to mDs/Ds will share knowledge with self-advocates who have mDs/Ds and their family members. They will also share ideas with one another and trainees to create new research avenues and to build/expand partnerships between professionals and people from the mDs/Ds communities. Importantly, by discussing strategies to enhance the participation of people from minority groups in our mDs/Ds support groups, research, and trainee pool, this conference will serve as a conduit for expanding diversity, with the goal of improving the quality of life and reducing health care disparities experienced by people from all races and ethnicities who have mDs or Ds. This location was selected, in part, because it is rich in diversity, thereby facilitating attendance by new participants from minority groups. A second aim for this conference is to facilitate clinical and basic research by expanding data and biospecimens available for sharing with the Down syndrome community and by enhancing cohort development. This aim will be achieved using a novel approach wherein self-advocates and their family members directly enroll in research projects or consultations of interest to them, at a setting that is most convenient for the participants. By designing an innovative, cooperative process for specimen collections, this conference will provide a forum for sharing research specimens/data with the Down syndrome community via the INCLUDE Data Hub and Portal, as well as other repositories (NMASKK, Emory, & Human Trisome Project) committed to sharing resources. Several of the anticipated meeting attendees have participated in the NMASKK repository over their lifespan (range of 2 to 30+ years of follow-up data), making this conference a unique venue for longitudinal data collection. Since people with mDs acquire the same gestalt of health/ behavioral conditions seen in people with non-mosaic Ds, comparisons of biomarkers in their isogenic trisomic/disomic cells could help unmask the biological complexity of trisomy 21-related outcomes.