Research

RESEARCH LABS RESEARCH HIGHLIGHTS & RESOURCES SYNGAP1 (MRD5) PATIENT REGISTRY BTG - SCIENTIFIC CONFERENCES

DOING OUR PART - Patient Data Drives Research

SYNGAP1 Research Labs and Partnerships

Strong Collaborations + SYNGAP1 Research = Accelerated Development for Better Treatments

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

Seth Grant, MD, PhD

Edinburgh, Scotland, UK

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

Shilpa Kadam, PhD

Baltimore, MD

Rumbaugh Research Lab Rumbaugh Group - Scripps Research Institute

Gavin Rumbaugh, PhD

Jupiter, FL

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

Jimmy L. Holder, MD, PhD

Houston, TX

Huganir Research Lab - Johns Hopkins University School of Medicine

Richard Huganir, PhD

Baltimore, Maryland

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

Julia Dallman. PhD

Miami, Florida

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

Michael Parker, MD, PhD

West Bank, Sheffield, UK

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

Andrew Stanfield, MD, PhD

Edinburgh, Scotland, UK

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

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.

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

Bridge the gap

Advocacy, Awareness, Education & Research

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.

Published SYNGAP1 (MRD5) Registry
& Natural History Data

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) Registry and Natural History Study data must be HIPPA Certified and have IRB Approval.
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‍The NORD Platform and Dropbox data clouds are covered by a Cyber Insurance Policy held by Bridge the Gap – SYNGAP Education and Research Foundation.

Click on the Link below to view the SYNGAP1 (MRD5) Patient Registry Website

SYNGAP1 Patient Registry

*Access to the SYNGAP1 (MRD5) Registry and Natural History Study is contingent upon, written approval
from the BTG Advisory Board Committee, to ensure all HIPPA privacy and IRB Guidelines are met.
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If you questions or would like more information about the SYNGAP1 (MRD5) Patient Registry
Please Contact BTG's - SYNGAP1 Patient Registry Administrator‍