SYNGAP1 Foundation Q&A
1. What is the SYNGAP1 Foundation?
SYNGAP1 Foundation is the leading non-profit patient advocacy group dedicated to improving the quality of life for patients and families affected by a SYNGAP1 gene mutation or variant. SYNGAP1 is a gene located in the brain that provides instructions for making a protein, called SynGAP, that plays an important role in nerve cells and early brain development that affects future cognitive ability. Children born with a SYNGAP1 gene mutation or variant are affected by a variety of symptoms, ranging from mild to severe.
Founded in 2014, the SYNGAP1 Foundation was the first non-profit organization to begin supporting research for SYNGAP1 and one of the first to be established around a gene mutation rather than a disease. This focus on a specific gene has created broad interest in the organization because the SYNGAP1 gene and SynGAP protein are believed to be connected to many symptoms associated with other neurological disorders. While the organization’s programs and initiatives have expanded globally over the years, SYNGAP1 Foundation’s mission to provide SYNGAP1 awareness, advocacy, education and research support has remained focused and consistent.
2. What does a SYNGAP1 gene mutation do to the body and what are the symptoms patients typically face? What is the long-term outlook for patients?
A SYNGAP1 gene mutation can have far reaching consequences on early childhood brain development. The SYNGAP1 gene drives the creation of the SynGAP protein found at the junctions between nerve cells (synapses) where cell-to-cell communication takes place. Connected nerve cells act as the “wiring” in the circuitry of the brain. Synapses change and adapt over time, rewiring brain circuits, which is critical for learning and memory. A SYNGAP1 gene mutation can depress SynGAP protein levels and cause disruptions in the synapses.
Children with a SYNGAP1 gene mutation can exhibit a broad range of symptoms, such as: learning disabilities, epilepsy, behavioral challenges, eating and sleeping difficulties, autism and sensory processing disorders. Symptoms vary from individual to individual and can range from mild to severe.
Early research suggests that SynGAP is the most abundant protein in the brain and that SYNGAP1 is a very large governance gene in the brain. Looking at the broad range of symptoms patients with a SYNGAP1 mutation have, it is likely that learning how SYNGAP1 functions could actually impact many other neurological disorders, such as strokes, schizophrenia and Parkinson’s Disease, to name only a few.
Gene therapy may hold some potential to help this patient population in the future. While promising, this avenue is unlikely to help all patients. Researchers are also looking at different types of variants that could lead to repurposing a drug for another disorder to help SYNGAP1 patients.
Read the rest of the article here: https://biologics.mckesson.com/syngap1-foundation-qa/
