Taking a Closer Look at Advocacy- The SynGAP1 Research Fund

Collaboration, Transparency, Urgency

ThinkGenetic is honored to partner with many incredible organizations, each with their own stories, struggles and triumphs. This month, we are taking a moment to highlight the work of one of our newest Advocacy Partners, the SynGAP Research Fund.    

What is SYNGAP1?

SYNGAP1 syndrome was first described in 2009. It is a rare genetic neurodevelopmental condition that causes intellectual disability, seizures, autism spectrum disorder, sleep difficulties, hypotonia, apraxia, behavioral issues and other symptoms. These  symptoms can range from mild to severe. While genetic, this condition is usually not passed on in families, but is the result of a new genetic change (or de novo change) in a child. Over 800 families have been identified worldwide, and it is thought that SYNGAP1 is underdiagnosed. 

“SynGAP Research Fund welcomes partnerships at every point in a patient’s journey. This starts with getting a diagnosis, which is too often a painfully drawn out experience for families. We are excited about the opportunity to partner with ThinkGenetic in the work of getting timely diagnoses for patients with rare diseases like SYNGAP1. We get more done when we work together.” – Mike Graglia, Founder and Managing Director of SynGAP Research Fund

A Family Affair – What is the SynGAP Research Fund?

The SynGAP Research Fund is a foundation dedicated to improving the lives of individuals with SYNGAP1 through research and the development of treatments, therapies and support systems. The foundation was founded in 2018 by parents of a child with SYNGAP1 and is currently the largest non-government funder of SYNGAP1 research. Already in its short time of existence, it has funded $2.1 million in research grants. The founders cover all operational costs of the foundation, enabling 100% of donated funds to go directly to research efforts. 

The SynGAP Research Fund also provides valuable information and connections for families through their blog, newsletter, podcast, webinars and support community. They have connections to families all over the world and work to get families the information they need to advocate for their child’s care. 

“We are pleased to partner with the SynGAP Research Fund and are so excited about the work they are doing to increase awareness about this rare and likely underdiagnosed condition,” says ThinkGenetic Chief Genetic Officer Dawn Laney. 

To learn more about the SynGAP Research Fund, visit their website at https://www.syngapresearchfund.org/. Please join us in thanking the SynGAP Research Fund for their hard work and dedication to the community!

Citations:

1. SynGAP Research Fund. (2021, December 17). https://www.syngapresearchfund.org/
2. Overview: What is SYNGAP1? ThinkGenetic. (n.d.). https://www.thinkgenetic.com/diseases/syngap1/overview.

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ThinkGenetic enters into Advocacy Alliance agreements with organizations, support groups and charities in order to share information, expand expertise, increase public awareness of conditions, and provide resources to those living with or caring for someone with a genetic disease or disorder. Interested in becoming an Advocacy Alliance member? Submit an application here.