Our Core Programs
The SYNGAP1 Foundation stewards the largest SYNGAP1 patient database in the world. Established in 2016, data collected has been used to discover new mechanisms, biomarkers, and endpoints to support clinical trials.
SYNGAP1(MRD5) Natural History Study and Registry is a research project that aims to study the SYNGAP1gene changes that are associated with intellectual disability, epilepsy, autism and other overlapping symptomology and neurodevelopmental disorders.
- Learn about their family member’s diagnosis
- Partner with some of the best minds in science
- Get updates on the latest research findings
Connect with others who share their diagnosis
- Contribute to advancements that will change the future for families with SYNGAP1 gene changes.
Our scientific conferences bring together researchers, clinicians, and young investigators worldwide to learn about the current science of SYNGAP1 and discuss strategic planning for future research initiatives.
The primary objectives of the program are to:
- Expand the SYNGAP1 research and clinical community, including introducing junior scientists and clinicians, postdoctoral and clinical fellows, and graduate students to the importance of studying these and related rare diseases.
- Bring together internationally recognized basic scientists and clinicians interested in the function of SynGAP protein, the disease substrates underlying the disorder, and the development of novel therapies for rare genetic diseases. We invite scientists, clinicians, and industry partners to develop and employ new technologies such as gene replacement using viral vectors and antisense oligonucleotide approaches to treat related neurodevelopmental disorders.
SYNGAP1 families are allowed to meet in person and participate in an internment settling providing education on the current research and having their loved one participate in clinical studies that help target potential clinical endpoints and outcome measures for clinical trial designs.