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

Virginia Commonwealth University, Richmond VA

Investigators

Abstract

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.