image: SRF Families at the recent SRF SYNGAP1 2023 Conference in Orlando, Florida.
Credit: SRF
Mill Valley, CA – May 22, 2024 – The SynGAP Research Fund 501(c)(3), the leading patient advocacy group working to improve the lives of SYNGAP1-Related Disorder (SRD) patients, today announced its recognition of many of the families who contribute to the success of SRF. Whether it be through community activation or fundraising, grant review or participation on the Board of Directors, or the most important role of all - lending an ear to a fellow SYNGAP1 caregiver in their time of need, the critical role our volunteers play in the success of our organization cannot be overstated.
SRF has published a collection of more than 50 introductions to some of their families and advocates as prime examples of the dedicated individuals who make up the backbone of SynGAP Research Fund.
Ed Gabler, SRF Communications and Marketing Director and grandfather to Cole, a 7-year-old Syngapian, states, “These testimonials show a united group of diverse, dedicated, and passionate volunteers who deliver a unified message - Collaboration, Transparency, Urgency! We work together for one goal - we want to find treatments and a cure for our families. Our actions and affiliated expenses are fully transparent - our financial documents are here for families, donors, researchers, and the world to see. We work tirelessly to accelerate the discovery of therapeutics and a cure - every volunteer contributes invaluable time and energy to this ultimate goal. As beautiful and precious as our Syngapians are, they are also sick. Only by finding a cure will we eliminate the negative impacts SYNGAP1-Related Disorders have upon their lives and the lives of their families.”
What Volunteering with SRF Means to the SYNGAP1 Community
“When Tony was diagnosed, we did what many families consider,” says Mike Graglia, Managing Director and co-founder of SynGAP Research Fund. “We jumped into action, both seeking existing SYNGAP1 resources and racking our brains for ways to help our son. It was a confusing and frustrating experience. We were unable to find a patient advocacy group actively pushing SYNGAP1 science forward. So we reached out to doctors and scientists and studied other patient advocacy groups. We came to believe that a science-focused patient group that was willing to advocate for faster therapies really could accelerate SYNGAP1 progress.
“With science in mind, we created SynGAP Research Fund with the mantra: Collaboration. Transparency. Urgency. Disappointment in our therapeutic options at the time, and our need for action on the heels of a devastating diagnosis for our son, led us here. We wanted to help; we needed to know what was going on; we needed progress...now. SRF was created so that every family diagnosed after us could have a post-diagnostic experience better than ours. With time, my motivation has grown. As I met more and more patients with SYNGAP1-Related Disorder, my heart expanded, and I came to care for and love them. SRF gives me purpose and energizes me today, and I believe as it grows stronger and I grow older, it will help take care of all patients with SYNGAP1, including Tony, in the years to come.”
Suzanne Jones, Chair of SynGAP Research Fund’s Board of Directors, agrees that SRF is all about families. “I felt a deeply emotional and powerful urge to act after years of uncertainty about my daughter's health culminated in a diagnosis. Fueled by both a mother's fierce protectiveness and my inherent drive, I knew that I would do absolutely everything in my power to help her. But I also recognized that I couldn't do it alone. Only by collaborating with equally motivated parents would I be able to improve my daughter’s life. Finding a united and passionate community in the form of SRF was, for me, priceless. While each of us dealing with a SYNGAP1 diagnosis reacts to and manages grief differently, and so may not be prepared to mobilize, I have witnessed firsthand that there is strength in numbers. Together, SYNGAP1 families can effect positive change in the wake of an unwelcome diagnosis.”
Jones continues, “Who is better suited than families and like-minded counterparts to coalesce on behalf of those afflicted with this disorder? SYNGAP1 impacts every single day of our lives, yet it remains almost unheard of across the globe. As a unified force, SRF volunteers tell the world about SYNGAP1, find researchers and clinicians interested in seeking a cure, and fundraise to support such initiatives. I often ask myself, “If not us, then who?”
“The outside world can witness the progress SRF has contributed to research by viewing our grants and hearing from these researchers in our webinars. But only through involvement behind the scenes can one truly appreciate the camaraderie, support, and connection our families have with each other,” according to Ed Gabler. “SRF’s volunteers come to us from all walks of life, and each brings a unique perspective and background that weaves together to enable the success and growth of our organization. We encourage all family members to join us. No matter how many hours you have available, we welcome your involvement in spreading awareness, driving science and research forward, or anything else you can contribute.”
You can view volunteer opportunities with SRF here.
About SYNGAP1-Related Disorder (SRD)
SYNGAP1-Related Disorder (ICD-10 F78.A1; ICD-11 LD90.Y) is a rare genetic disorder caused by variants on the SYNGAP1 gene that reduce SynGAP protein levels. SRF has identified over 1,400 patients to date, the number grows weekly. The SynGAP protein acts as a regulator in the synapses (where neurons communicate with each other). When SynGAP protein levels are too low, we see an increase in excitability in the synapses making it difficult for neurons to communicate effectively. This leads to many neurological issues seen in SynGAP patients.
Symptoms of SYNGAP1 include intellectual disability; epilepsy; hypotonia (low muscle tone); gross and fine motor skill delays; autism spectrum disorder; gastro-intestinal disorders; sleep and behavior disorders; and visual abnormalities.
About the SynGAP Research Fund (SRF)
The mission of the SynGAP Research Fund (SRF) is to improve the quality of life for SYNGAP1 patients through the research and development of treatments, therapies, and support systems.
SRF was founded in the US in 2018 as a 501(c)(3) US public charity, and families created sister organizations for SRF in the UK in 2020, in Europe (Netherlands) in 2022, and in Latin America (Colombia) in 2023.
Completely family-led, SRF is the largest non-government funder of SynGAP research having committed over $5.75 million in grants. The founders cover operational costs, ensuring donations fund science and patient-related programs. SRF’s grant program awards grants to investigators, physician residents, and clinicians interested in studying SYNGAP1. SRF grants are intended to help researchers explore novel ideas and answer open questions related to the clinical aspects of and therapies for SRD.
SRF is a member of FasterCures, COMBINEDbrain, Global Genes Foundation Alliance, Everylife Foundation Community Congress, Epilepsies Action Network, Personalized Medicine Coalition, Rare Epilepsy Network, Epilepsy Leadership Council, Alliance for Genetic Etiologies in Neurodevelopmental Disorders and Autism (AGENDA), California Action Link for Rare Diseases, Genetic Alliance UK, Rare Disease UK, Syndromes Without a Name (SWAN UK), Jumpstart Program, Autism Brain Net, Innovation and Value Initiative, Rare Disease Diversity Coalition, Cambridge Rare Disease Network, Breaking Down Barriers, Rare-X, Mencap & IndoUSRare.
For more on SRF, visit curesyngap1.org or follow @cureSYNGAP1 on LinkedIn, YouTube, Instagram, Facebook, TikTok, or X.
Method of Research
News article
Subject of Research
Not applicable