SYNGAP1 is a major gene who’s clinical relevance can be as prevalent as the most common single gene mutations like Fragile X, Angelman, Rett and Phlean-McDermid Syndromes.
“Early prevalence data indicate that these mutations (de novo mutations that disrupt SYNGAP1) are unexpectedly common (predicted to be >1 million afflicted individuals world-wide and more prevalent than fragile X syndrome), underscoring the impact that SYNGAP1 has on cognitive development.” (Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses
To serve, educate and fund research for families coping with the effects of SYNGAP mutations.
WHO WE ARE
Bridge the Gap – Syngap ERF began in September of 2014. A group of parents of children living with SYNGAP1 mutations came together to begin a new journey. The common bond is one driven by a desire to raise awareness and search out treatments to improve quality of life for these inspiring individuals.
150 by November 2018
SYNGAP1 (MRD5) PATIENT REGISTRY ON THE NORD NATURAL HISTORY PLATFORM
©2017 Bridge the Gap – SYNGAP ERF
All Rights Reserved.
15319 Redbud Berry Way
Cypress, Texas 77433
Tel: (832) 671-0010