This conference will utilize a novel multi-disciplinary approach to bring together patient families, clinicians and researchers as equal stakeholders in order to accelerate research discovery and close the gap to clinical impact. We will unite the international clinicians and researchers invested in SYNGAP1 to foster collaborative approaches to identify the molecular underpinnings of the disease and potential new avenues of treatment. Junior investigators will be supported through meeting participation and provided opportunities to build collaborative networks within and outside of their particular research areas. One of the primary goals of the meeting is to develop a deeper understanding of the clinical phenotypic diversity of children with SYNGAP1 mutations which can provide insights into the best strategies to pursue. Our hope is that these insights will help clinicians to earlier diagnosis and provide researchers with a glimpse of the clinical phenotype that can be critical in building translational models which can then be used to understand the molecular pathways relevant to this disease.
This is not a NORD sponsored event. This event is being hosted by a NORD member organization.