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年国际马赛克唐氏综合症协会社区授权的研究和撤退 周末：与唐氏综合症有关的研究增加了伙伴关系，人群和多样性 将于2023年7月27日至30日在加利福尼亚州圣地亚哥举行。这个独特的会议着重于提供 为患有马赛克唐氏综合症的人提供信息，资源，支持和研究机会 （MDS）。大约2％至4％的唐氏综合症（DS）患有镶嵌性。大多数有MD的人 有两种类型的细胞：患有21三体性不平衡的细胞；和典型（疾病）染色体的细胞 化妆品。鉴于摩西主义并不常见，拥有MD的人及其家人有限 接触共享此诊断的其他人，并且经常被拒绝获得资源或研究 机会。为了满足包容性的需求，这次会议的目标是分享有关MDS/DS的知识 在一个社区中的研究人员，临床医生，自我顾问和父母/护理提供者中， 授权的方式。为了实现这一目标，思想领导者致力于提供教育，临床和 与MDS/DS有关的研究机会将与具有MDS/DS及其的自我顾问分享知识 家庭成员。他们还将与彼此分享想法和学员，以创建新的研究途径和 建立/扩展来自MDS/DS社区的专业人员与人之间的伙伴关系。重要的是， 讨论策略以增强少数群体的参与我们的MDS/DS支持 小组，研究和实习生池，本次会议将成为扩大多样性的渠道，目标 改善生活质量并减少所有种族的人经历的医疗保健分配和 拥有MDS或DS的种族。选择此位置部分是因为它具有丰富的多样性，因此 促进少数群体的新参与者出席。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测量来扩展临床和基础研究 通过增强队列发展。使用一种新颖的方法来实现此目标 自我倡导及其家人直接参加研究项目或感兴趣的咨询， 在对参与者最方便的环境下。通过设计创新的合作过程 标本收集，本次会议将提供一个论坛，用于与下降的研究标本/数据共享 综合症社区通过包括数据中心和门户以及其他存储库（Nmaskk，Emory， ＆人类Trisome项目）致力于共享资源。有几个预期的会议与会者有 参与NMASKK存储库的寿命（范围为2至30年的随访数据），使 这次会议是纵向数据收集的独特场所。由于患有MD的人会获得相同的 在非摩西DS的患者中看到的健康/行为状况的格式塔，生物标志物的比较 等源性三体性/疾病细胞可以帮助揭示与三体性21相关结局的生物学复杂性。