World’s Largest-Ever Study of SYNGAP1 (MRD5) Launches

Bridge the Gap – SYNGAP Education and Research Foundation has launched the largest-ever study to research SYNGAP1 that causes intellectual disability, speech delay, hypotonia, and linked to a spectrum of epilepsies and autismSYNGAP1 currently has no cure.

“SYNGAP1 Natural History Study (NHS) Registry will provide a complete picture of each patient’s experience with SYNGAP1,” said Monica Weldon, President/CEO, “We are launching this initiative to help fill the missing link researchers and medical experts need to advance research and get to a cure.”
To help drive awareness and participation, Bridge the Gap – SYNGAP Education and Research Foundation will be launching the NHS Registry in late December of 2016 and offering a webinar (TBA) for SYNGAP1 community members.  We introduced the program and spotlighting the platform at our First International SYNGAP1 Conference November 30 – December 1, 2016 in Houston, Texas at the Texas Children’s Woman’s Pavilion to clinicians, scientists and families in attendance.   

“Our goal is to enroll as many patients, or their parents or legal guardians, as possible,” said Weldon. “The success of the registry is dependent upon community participation.”
SYNGAP1 Natural History Study (NHS) Registry is a natural history study that consists of electronic surveys to collect information about the patient experience and disease progression. Patients, or their caregivers or guardians, can enter information from anywhere in the world.  The data is made anonymous and stored securely in an online portal called a registry. Bridge the Gap – SYNGAP Education and Research Foundation may share the data but not your personal identifying information with individuals or institutions conducting research or clinical trials, as approved by the study’s governing board that includes scientists, doctors and patient advocates.

Read the rest of the article here: https://globalgenes.org/blog/worlds-largest-ever-study-of-syngap1-mrd5-launches/