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

2023 年国际马赛克唐氏综合症协会社区赋权研究和静修周末：增加唐氏综合症相关研究的合作伙伴关系、群体和多样性

• 批准号: 10682970
• 负责人: COLLEEN K JACKSON-COOK
• 金额: $ 3.71万
• 依托单位: VIRGINIA COMMONWEALTH UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-04-01 至 2024-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10682970
• 关键词: Advocate; Aneuploidy; Basic Science; Behavioral; Behavioral Sciences; Biological; Biological Markers; Books; California; Cells; Child; Chromosome 21; Clinical; Clinical Research; Clinical Trials; Cognitive; Collaborations; Collection; Communities; Consultations; Cytogenetics; Data; Data Collection; Development; Diagnosis; Discipline; Down Syndrome; Dreams; Education; Enrollment; Ensure; Ethnic Origin; Exclusion; Exposure to; Family member; Goals; Health; Human; Individual; International; Intervention; Investigation; Knowledge; Locales; Location; Longevity; Medical; Minority Groups; Modeling; Mosaicism; Outcome; Parents; Participant; Persons; Phenotype; Process; Quality of life; Race; Recruitment Activity; Research; Research Personnel; Research Project Grants; Resource Sharing; Resources; Schedule; Scientist; Series; Site; Social Sciences; Source; Specimen; Support Groups; Travel; Variant; care providers; cell type; cohort; collaborative approach; community engagement; cooking; cost efficient; data hub; data portal; design; disparity reduction; empowerment; experience; follow-up; health care disparity; improved; innovation; interest; meetings; member; minority trainee; mosaic; novel strategies; programs; recruit; repository; research study; sample collection; social; symposium; synergism; trait

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.

项目摘要 2023年国际唐氏综合症协会社区授权研究和务虚会 周末：增加伙伴关系，队列，和多样性的研究与唐氏综合症”会议 将于2023年7月27日至30日在加州圣地亚哥举行。这一独特的会议侧重于提供 为马赛克唐氏综合症患者提供信息、资源、支持和研究机会 （mDs）。大约2%至4%的唐氏综合征（Ds）患者有镶嵌现象。大多数患有MD的人 有两种类型的细胞：21三体不平衡的细胞;和典型的（二体）染色体 化妆鉴于镶嵌现象并不常见，mDs患者及其家庭成员的 暴露于其他共享此诊断的人，并且经常被拒绝获得资源或研究 机会为了满足这种包容性的需要，本次会议的一个目的是分享有关mDs/Ds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- 授权的方式。为了实现这一目标，思想领袖致力于提供教育，临床， 与mDs/Ds相关的研究机会将与患有mDs/Ds的自我倡导者及其 家庭成员他们还将与彼此和学员分享想法，以创造新的研究途径， 建立/扩大专业人员与医学博士/博士社区人员之间的伙伴关系。重要的是毫 讨论加强少数群体参与我们的医学博士/博士支持的策略 小组，研究和实习生池，这次会议将作为扩大多样性的渠道，目标是 改善生活质量和减少所有种族的人所经历的医疗保健差距， 有MD或D的种族。选择这个地点的部分原因是它具有丰富的多样性，因此 为少数群体的新与会者出席会议提供便利。本次会议的第二个目标是促进 通过扩大与唐氏综合征共享的数据和生物标本，开展临床和基础研究 社区和加强队列发展。该目的将使用一种新颖的方法来实现，其中， 自我倡导者及其家庭成员直接参加他们感兴趣的研究项目或咨询， 在一个对参与者来说最方便的环境中。通过设计一个创新的、合作的过程， 标本收藏，本次会议将提供一个论坛，分享研究标本/数据与下 综合征社区通过INCLUDE数据中心和门户网站，以及其他储存库（NMASKK，埃默里， 和人类三体项目）致力于资源共享。一些预期的会议与会者已经 在其生命周期内参与NMASKK存储库（范围为2至30年以上的随访数据）， 这次会议是纵向数据收集的独特场所。因为患有mDs的人获得了同样的 在非镶嵌性Ds患者中观察到的健康/行为状况的完形， 同基因三体/二体细胞可以帮助揭示21三体相关结果的生物学复杂性。