International SYNGAP1 Conference
The SYNGAP1 Foundation’s International SYNGAP1 Conference provides a cutting-edge, scientific, and educational
forum to bring together a diverse group of SYNAP1 Community stakeholders. SYNGAP1 Community stakeholders include - research scientists, clinical specialists, SYNGAP1 Families, industry, academic, government, and community leaders.
In addition, the conferences provide opportunities to bring together scientists and clinicians actively involved in SYNGAP1 Research with trainees, young investigators, and underrepresented minorities, as well as experts in developing targeted therapies related to neurodevelopmental disorders. Our goal is to increase the participation of trainees, young investigators, and underrepresented minorities in neurodevelopmental disorder research and to encourage the development of targeted therapies to treat SYNGAP1 and related neurodevelopmental disorders.
The conferences are designed to maximize scientific resources, encourage collaboration opportunities, and provide an inclusive forum for SYNGAP1 families and caregivers. Each meeting features a broad range of session topics related to SYNGAP1 mutations, related neurodevelopmental disorders, published and unpublished research data, and patient-centric study design. Time is allotted during each presentation for SYNGAP1 experts to lead discussions on current and future avenues of research.
First International SYNGAP1 Conference
The critical objective for First International SYNGAP1 Meeting on SYNGAP1-related disorders. There are several goals for this meeting:
- To bring together internationally-recognized basic scientists and clinicians interested in the function of SynGAP protein, the disease substrates underlying the disorder, and developing novel therapies for rare genetic disorders.
- To further the understanding of SYNGAP1 in normal brain function and to develop a consensus on the most effective avenues toward novel treatments.
- To expand the SYNGAP1 research and clinical community, including the introduction of junior scientists and clinicians, postdoctoral and clinical fellows, and graduate students to the importance of studying this and related rare diseases.
- To grow the emerging international SYNGAP1 research and clinical network to foster fully collaborative multi-laboratory basic research, to enhance participation in the already-existing MRD5 patient registry, and to catalyze a natural history study to advance patient care and treatment.
Read our Published Summary of The First International SYNGAP1 Conference Here:
Second International SYNGAP1 Conference
Our key objective of the meeting was to highlight gains in knowledge to identify the critical next steps in developing targeted therapies for children with neurological disorders due to loss of function mutations in SYNGAP1.
- Experts attended focused on developing therapies for neurodevelopmental disorders, both basic scientists developing new technologies and physicians, representatives from biotech and pharmaceutical companies actively engaged in clinical trials of novel treatment avenues for neurodevelopmental disorders.
- A smaller half-day session was dedicated to young investigators presenting their work to each other and expert researchers.
- Overview of the past five years in basic SYNGAP biology by clinicians and researchers presented findings on current data collected from SYNGAP1 patients and is heavily focused on the spectrum of epilepsies found in SYNGAP1 mutations.
- We are outlining new developments in our understanding of the clinical phenotypes associated with SYNGAP1 LOF mutations and quantitative endpoints for future clinical trials.
- Discussed new technologies being brought to bear on developing treatments for neurodevelopmental disorders, followed by a session on implementing these technologies in clinical trials and clinical practice.
Third International SYNGAP1 Conference
The key objective of this proposal is to obtain funds to support the Third International Meeting on SYNGAP1-related disorders. There are several goals for this meeting:
- To foster fully collaborative multi-laboratory research projects between internationally-recognized basic scientists, clinicians, and under-represented minorities clinicians/scientists who are interested in the function of SynGAP protein, the disease substrates underlying the disorder, and developing novel therapies for rare genetic disorders.
- To identify gaps in knowledge, further understanding SYNGAP1 in normal brain function, identify critical next steps in developing targeted therapies and biomarkers, and prepare for clinical trials.
- To expand the SYNGAP1 research and clinical community by introducing junior scientists, clinicians, postdoctoral, clinical fellows, and graduate students to the importance of studying this and related rare diseases.
The meeting was followed by The SYNGAP1: Externally Led Patient-Focused Drug Development (PFDD) meeting. The Patient-Focused Drug Development Program Staff leads initiatives and provides strategic, regulatory, program, and policy assistance within the Center for Drug Evaluation and Research (CDER) to facilitate the incorporation of patient input into decision-making.