SYNGAP1 Foundation

OUR MISSION:

Bridge the Gap – SYNGAP Education and Research Foundation’s mission is to serve, educate and fund research for families coping with the effects of SYNGAP mutations. Our organization 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 the quality of life for these inspiring individuals.

DESIRED IMPACT:

Our desired impact is to raise awareness of SYNGAP1 (MRD5), unite patient families while building a robust data registry and providing meaningful information to researchers. Second, our goal is to create a standard of care and SYNGAP1 disease profile. This will educate researchers and medical professionals in hopes of improving time to early diagnosis. It is crucial that early diagnosis is made as we have seen that early therapy can be incredibly valuable to the development of our SYNGAP1 patient community. Lastly, we aim to educate families and clinicians with data collected from our SYNGAP1 (MRD5) Registry and Natural History study to create customized treatment plans that can result in the best outcomes for progress made by each patient. With guidance from our scientific advisory board, it is also our goal to shape our programs that will benefit and accelerate the science to treatments for SYNGAP1.

METHOD:

Building relationships and partnerships with advocacy organizations, such as Global Genes, The National Organization of Rare Disease, Rare Disease Legislative Advocates (RDLA) and Unique UK help to further rare disease awareness. Other partnerships include academia collaborations with Johns Hopkins University, Baylor College of Medicine, Texas Children’s Hospital, Melbourne University, Patrick Wilde Center and Université de Montréal. These important collaborations between clinical specialists are building Centers of Excellence that focus on precision medicine treatments specifically for SYNGAP1 patients.

EXPECTED OUTCOMES:

● Setting specific directional goals with ongoing research and is in sync with foundation programs.

● Creates open channels of communication increasing patient engagement and provides the information needed to move research forward in a calculated and accelerated manner.

● Develops ways to accelerate research by aligning with patient groups to develop study protocols and leverage usable data.

CONCLUSION:

The key to success for our organization to reach its full potential is by engaging patient families and encourage participation in SYNGAP1 related research. By doing this, we are directly supporting the researchers. Finding out the biological mechanisms of SYNGAP1 is the first step. The patient community working together to find answers will help us reach our goals, potentially accelerating to needed treatments that SYNGAP1 patients so desperately need.