Research

Strong Collaborations + SYNGAP1 Research = Accelerated Pathways to Better Therapeutic Treatments

DOING OUR PART - Patient Data Drives Research

SYNGAP1 Research Labs and Partnerships

Our Programs are Strategically Designed to Work in
Collaboration and Partnership with Researchers

Kadam Research Lab, Kennedy Krieger Institute Johns Hopkins School of Medicine

Shilpa Kadam, PhD

Baltimore, MD

Huganir Research Lab - Johns Hopkins University School of Medicine

Richard Huganir, PhD

Baltimore, Maryland

The Patrick Wild Centre for Research in Autism, Fragile X and Intellectual Disabilities - University of Edinburgh

Andrew Stanfield, MD, PhD

Edinburgh, Scotland, UK

Grant Research Lab, Centre for Brain Science, University of Edinburgh

Seth Grant, MD, PhD

Edinburgh, Scotland, UK

Holder Research Lab, Texas Children's Hospital, Baylor College of Medicine

Jimmy L. Holder, MD, PhD

Houston, TX

Rumbaugh Research Lab Rumbaugh Group - Scripps Research Institute

Gavin Rumbaugh, PhD

Jupiter, FL

Dallman Research Lab, University of Miami - Southeast USA SYNGAP1 Center of Excellence *Consortium Partner

Julia Dallman. PhD

Miami, Florida

Michaud Research Lab -CHU Sainte-Justine Research Center, Université de Montréal

Jacques Michaud, MD, PhD

Montreal, Quebec, CA

Scheffer Research Lab - Florey Institute of Neuroscience and Mental Health, University of Melbourne

Ingrid Scheffer. AO, MBBS, PhD, FRACP, FAA, FAES

Victoria, Australia

Sheffield Children's NHS Foundation Trust - Paediatric Hospital and Research Centre

Michael Parker, MD, PhD

West Bank, Sheffield, UK

SYNGAP1 data

Research Highlights

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.
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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.
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Read the full article here.

Published: 10/15/2019; Charlie Wood;
Society for Neuroscience at BrainFacts.org

Bridge the gap

Advocacy, Awareness, Education & Research

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

SYNGAP1 Patient Registry

Published SYNGAP1 (MRD5) Registry & Natural History Study Data

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.

Call Us Email Us

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.

Rare Disease Research Needs...
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Rare Disease Patient, Family, Caregiver Insight & Input
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Bridge the Gap is actively seeking SYNGAP1 Families to participate in ongoing clinical research studies at BTG - SYNGAP1 Centers of Excellence.

If you have questions or would like more information, please contact our BTG - SYNGAP1 Research Team via the button below:
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Contact the
BTG - Research Team

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.”