SYNGAP1-Related Basic Science, Translational & Patient-Centered Research
Richard Huganir, PhD
Dr. Huganir, co-discovered the SYNGAP1 gene in mice in 1998 while studying the brain's synapses, the connections between neurons where thoughts become actions and memories form. He is the Director, Department of Neuroscience at John Hopkins School of Medicine and a Bloomberg Distinguished Professor. You can learn more about Dr. Huganir and his ongoing research, by clicking on his research lab, in the section above.
Images above show normal neurons (left) and the enlarged dendritic spine of neurons with SYNGAP1 mutations. Courtesy of Richard Huganir, PhD
Patient Driven: Neuroscientists Solve the Puzzle of the Gene-Protein Duo Behind SYNGAP1
Learn how Neuroscientists like Richard Huganir and Gavin Rumbaugh are inspired by SYNGAP1 patients and utilizing Bridge the Gap's SYNGAP1 Patient Registry database to help discover exciting new findings about SYNGAP1. Read the full article here.
Published: 10/15/2019; Charlie Wood; Society for Neuroscience at BrainFacts.org
Check out our "What is SYNGAP1"page for more information about SYNGAP1.
SYNGAP1 (MRD5) Registry & Natural History Study
The SYNGAP1 (MRD5) Registry and Natural History Study collects disease-specific natural history data about individuals with SYNGAP1. The goal of the registry is to expand the understanding of SYNGAP1 and provide data that can help guide treatment development.
Registry questionnaires are built with common data element standards and cover the following topics: - Socio-demographics - Medical and Diagnostics - Treatment and Disease Progression - Management of Care - Quality of Life
The Registry is located on a cloud-based platform, under the ownership of NORD (iamrare) and is maintained by Bridge the Gap.
The SYNGAP1 (MRD5) Registry follows strict government guidelines to assure patient information is protected. The registry platform is served over HTTPS, providing encryption of traffic to prevent eavesdropping and man-in-the-middle attacks. Communication between the registry platform application server and the database are also encrypted.
*Access to SYNGAP1 (MRD5) Registry and Natural History Study Data is contingent upon written approval from BTG's - SYNGAP1 Registry Committee.
Data Access is limited to the scope of a project and subject to IRB approval. Strict adherence to all applicable regulatory guidelines, HIPPA certification requirements and IRB Guidelines is required.
Click on the button below to view the SYNGAP1 Patient Registry Website
If you have any questions or would like further information about the SYNGAP1 Registry, please contact BTG's SYNGAP1 Patient Registry Administrator by email or phone.
BTG maintains a separate, Business Dropbox (cloud-based platform) to ensure all uploaded patient records are held securely.
All scientific investigators/researchers, who would like access to the SYNGAP1 (MRD5) Natural History Study data. must be HIPPA certified and have institutional IRB approval.
The NORD Platform and Dropbox data clouds are covered by a Cyber Insurance Policy held by Bridge the Gap – SYNGAP Education and Research Foundation.
Jacques Michaud, MD, PhD Director of Research, CHU Sainte-Justine Research Center, Professor of Pediatrics & Neurosciences, Université de Montréal
“We are entering an era of rapid scientific discovery. We can succeed in harnessing the great power of these advances by working together.
By forging connections between the children and their families, the physicians who care for them and a growing community of scientists, we are able to make the fastest possible progress in our understanding of this condition to improve the outcome.”
Clinical Research Opportunities for SYNGAP1 Patients/Families
Click on a study below to learn more about it & how you can participate