Researchers will investigate the link between SYNGAP1 protein deficiency, cilia dysfunction, and clinical symptoms of SYNGAP1-Related Disorders. The study aims to inform rational drug design and provide new insights for targeted therapies.
CURE SYNGAP1 invests in remote assessment tools to broaden access to clinical care and trials for patients with SYNGAP1-Related Disorders. The study aims to evaluate the validity of a standardized remote developmental assessment to reduce travel burden.
The CURE SYNGAP1 COLLECTIVE is a collaborative framework uniting independent SYNGAP1 charities worldwide to accelerate treatments for individuals with SYNGAP1-Related Disorders. The Collective focuses on three primary pillars: research, industry engagement, and patient advocacy.
The 2025 Impact Report showcases tangible progress made by CURE SYNGAP1, including almost $1.8M in grants and the most successful SYNGAP1 Science Conference ever. The report highlights the organization's focus on Collaboration, Transparency, and Urgency, driving momentum for clinical trials and treatments.
CURE SYNGAP1 partners with RARE-X to accelerate ProMMiS study's Patient-Reported Outcome measure data collection. This investment enables the centralized collection of high-quality PROs, essential for regulatory approval and therapy development.
The organization welcomes Craig Bower, Allison Hirsch Hadar, Susan Johnson, Andrew Schillaci, and Ed Warshauer to its Board of Trustees, succeeding outgoing members. These new leaders join a mission primed for global impact, signaling a reinforced commitment to accelerating safe, effective, and targeted therapies.
CURE SYNGAP1 accelerates treatment development for SYNGAP1-Related Disorders through rigorous research and family-led leadership. The organization has funded over $8 million in grants and identified over 1,707 patients to date.