Recently, data from Bridge the Gap – SYNGAP Education and Research Foundation’s SYNGAP1 Natural History Study Registry has helped scientists at The Scripps Research Institute - Florida identify a potential biomarker for SYNGAP1-related intellectual disability with epilepsy.” (MRD5). EEG reports from 6 patients revealed increased epileptiform activity during sleep—a phenomenon also observed in an adult mouse model for SYNGAP1 (MRD5). In addition, researchers found that by genetically restoring the “broken” copy of the mouse version of SYNGAP1 in these animals, they were able to reduce the epileptiform activity during sleep and improve seizure and memory deficits. These results suggest the possibility of using interictal spiking (IIS) activity, the EEG waveform that worsened with sleep, to predict cognitive impairment in SYNGAP1 (MRD5) patients. If this biomarker is validated through future clinical studies, it could be a powerful tool to assess the efficacy of novel treatments under development for SYNGAP1 (MRD5) patients. This type information is critical in helping design future clinical trials, as it provides a measurable endpoint when looking for an experimental therapy being successful. The power of patient driven registries can provide needed data to discover new mechanisms (functions) of the gene, measurable endpoints and biomarkers for clinical trial design. This is the largest SYNGAP1 patient-driven registry and is a proprietary platform built with FDA and coordinated by National Organization for Rare Disorders Inc.
Authors of the study, "Re-expression of SynGAP Protein in Adulthood Improves Translatable Measures of Brain Function and Behavior," include first author Thomas K. Creson, Camilo Rojas, Thomas Vaissiere, Muratb Kilinc, Gavin Rumbaugh and Courtney Miller of Scripps Research, Ernie Hwaun and Laura Lee Colgin of the Institute for Neuroscience at the University of Texas at Austin, and J. Lloyd Holder, Jr. and Jianrong Tang of the Baylor College of Medicine.
About Bridge the Gap – SYNGAP ERF
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.