Bridge the Gap – SYNGAP Education and Research Foundation (501(c) 3) is a non-profit organization whose mission is to serve, educate and fund research for families coping with the effects of SYNGAP1 mutations. The leading organization advocating and raising funds for research and treatments for SYNGAP1. Our international outreach for SYNGAP1 children gathers critical information, which is needed to drive research towards more immediate therapeutic solutions. Bridge the Gap-SYNGAP mission is to improve the quality of life for people affected by SYNGAP1, provide family support, accelerating research and raising awareness so that every family and every child with SYNGAP1 can provide information that can guide us to a cure.
Since its inception in September of 2014, the organization has grown rapidly because of the tireless efforts of the volunteer board of trustees and parents. In May of 2015, the foundation and scientific advisory board published the first combined descriptive summary of SYNGAP1 mutations published by the National Organization of Rare Disease.
Bridge the Gap – SYNGAP ERF is also partnering with several on-going research studies across the globe that
are aimed at understanding epilepsies and autism spectrum disorders. We have two current studies focused specifically on epilepsies. The first being The Rare Epilepsy Network (REN) which is a collaboration between the Epilepsy Foundation, RTI International, Columbia University and many other different organizations that represent patients with a rare syndrome or disorder that is associated with epilepsy or seizures. The REN will establish a registry of these patients which includes patient or caregiver-reported data in order to conduct patient-centered research. The second is a study being conducted by the University of Melbourne in Australia directed by Dr. Ingrid Sheffield. This research will assist us to understand the nature of SYNGAP1 disorders and epilepsy and other disorders associated with them. The hope is that the information collected will help families and their doctors to diagnose this condition, identify the seizure types and associated disorders, and select appropriate medication.
Our patient group is participating in an autism study with Simons VIP Connect. The research study is aimed to better understand the medical, learning and behavioral features of individuals with genetic changes associated with features of autism, developmental delays, and other neurodevelopmental concerns (like seizures). They identify the needs of the families while providing support through education, access to experts, and by connecting with other families.
In April 2016, the foundation was awarded by the National Organization of Rare Disease and the US Food and Drug Administration, the first and largest Natural History Study and Registry for SYNGAP1 (MRD5). This is a five-year project that will produce specific data about SYNGAP1 mutations and shared with researchers who study SYNGAP1 to find better treatments. Monica Weldon is the primary investigator on the project that includes 7 physicians and 3 Bridge the Gap – SYNGAP ERF charter members.
The organization has consistently and specifically worked to further education and research efforts to battle the effects of the Syngap1 gene mutation.