Background: 3q29 deletion syndrome is an understudied genetic condition caused by missing genetic material on the third chromosome. Initial research indicates association with mild to moderate intellectual disability, autism, and schizophrenia. Diagnosis of 3q29 deletion syndrome has confusing and frightening implications for families wanting to know about effective early intervention strategies and overall quality of life. Currently, little information exists about the course and treatment of this syndrome.
Proposed Solution: To host the first ever 3q29 deletion families meeting in March 2020 to promote interactions and strategic partnerships between families, clinicians, and researchers to inform research on the syndrome.
- Engage the 3q29 community toward the goal of self-advocacy by identifying their informational needs and research priorities
- Execute a conference focusing on issues central to 3q29 deletion syndrome attended by stakeholders, including patients, families, and other stakeholders from the clinical and research communities
- Inform bidirectional information exchange between patient-family and other stakeholders (e.g., clinicians, researchers)
- Empower the 3q29 community with knowledge of patient-centered outcomes research and clinical effectiveness research
- Disseminate conference proceedings to 3q29 families, clinicians, and researchers so that information is broadly accessible
Activities: The conference, which takes place over 3q29 Awareness Day (March 29, 2020), will be comprised of interactive sessions designed to engage stakeholders, to impart information in a bidirectional way between families and other stakeholders.
Outcomes and Outputs: Expected outcomes of this project are: the first ever families conference focused on 3q29 deletion syndrome; white papers and manuscripts documenting stakeholder-identified themes and needs; a research agenda that will inform research priorities over the next five years, increased syndrome awareness, and broad dissemination of conference proceedings and research findings.
Patient and Stakeholder Engagement Plan: Working in concert with a team of parent partners, the Emory 3q29 Project will continue to engage families and community stakeholders through social media, the 3q29 Registry, and Emory 3q29 Project website.
Project Collaborators: The conference planning team, led by parent partners, includes members of the Emory 3q29 Project and collaborators throughout Emory (including a PCORI Ambassador) with relevant clinical, patient education, or conference planning expertise.
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Last updated: November 30, 2022