image: A young child with SYNGAP1-related disorder undergoes EEG monitoring, highlighting the need for research and a cure.
Credit: SynGAP Research Fund dba Cure SYNGAP1
Mill Valley, CA – February 11, 2025 – The SynGAP Research Fund 501(c)(3) dba Cure SYNGAP1 proudly announces the release of its inaugural Impact Report, a transparent and celebratory reporting of tangible goals achieved and purposeful progress made in 2024 by this growing and dynamic organization led entirely by families and driven by volunteers. With a mission rooted in improving the lives of SYNGAP1 patients, and built upon the promises of Collaboration, Transparency and Urgency, SRF’s 2024 Impact Report provides stakeholders – including families, scientists, and donors – a thorough and extensive look at the incredible achievements the organization has made in accelerating research, collaborating with academy and industry to develop medicine for SYNGAP1-related disorders (SRD), activating the patient community, and engaging in public policy to ensure patients and families living with SRD have a voice in creating a more accessible, accommodating, and just world.
Like everything else SRF does and stands for, the Impact Report is a labor of love; a triumphant declaration of promises made, promises kept; a call to continued action, and an invitation to seize the opportunity to join its far-reaching, meaningful mission; a testament to SRF’s laser-focused and unwavering commitment to finding treatments and a cure for SYNGAP1-related disorders.
SRF Co-Founder and Managing Director Mike Graglia has no doubts about the impact the organization is having. As a parent of a son with SYNGAP1, he knows there is no time to waste, because, “Time is brain. I believe we are making a meaningful impact, and our work is valuable. I know several researchers who would not be focused on SYNGAP1 or would not be as far along without our support. Companies who are presently close to trials have conveyed to me what a difference SRF’s iPSCs and rapid information sharing have made in their decision to prioritize SYNGAP1. So many families have better care because of the support of this community. Multiple studies include SYNGAP1 because SRF was able to recruit patients into them rapidly.”
Accelerating Research
To fully illustrate the enormity of SRF’s commitment to funding research initiatives, and the critical scientific outcomes the organization facilitates, the Impact Report outlines the Seven Core Scientific Programs that reflect the organization’s urgency to drive breakthroughs and secure successful treatments. Each program – including basic and translational science, drug repurposing, SYNGAP1 missense research, biomarkers, endpoints, research reagents, SYNGAP1-related disorders characterization, and a first-of-its-kind SYNGAP1 Natural History study at multidisciplinary clinics – serves a crucial role in accelerating genetic and translational science research, with a combined 51 grants funded totaling over $6 million dollars since the Fund was established in 2018.
“SRF has committed more than $6M to SYNGAP1-related disorders (SRD) science, guided by a world-renowned Scientific Advisory Board of SYNGAP1 researchers. We’ve made strategic investments … repurposed drugs, ASOs, and gene therapies. SRF’s creation of an ICD-10 code, publishing of a quarterly SYNGAP1 Census, investing in Citizen Health’s digital natural history study, and hosting of an annual scientific conference are all vitally important, without which SYNGAP1 would not be where it is on the path to treatments,” says Peter Halliburton, a SYNGAP1 dad, who serves on the SRF Board of Trustees.
Collaborating to Develop Medicine for SYNGAP1-Related Disorders
For patients, families, and caregivers living with SYNGAP1-related disorders, who must navigate core disease features such as epilepsy, intellectual disability, autism spectrum disorder, and maladaptive behaviors – as well as challenges with sleep, speech, eating, GI distress, psychiatric comorbidities, gait problems, hypotonia, and sensory processing issues – there is no time to waste in the search for viable treatments and effective cures. Collaborating with academia and industry to develop medicines for SYNGAP1-related disorders has resulted in an active SRD pipeline, built upon four pillars designed to ensure clinical trial readiness: natural history studies, SYNGAP1 biomarkers and endpoints, regulatory engagements , and patient recruitment. Investing in these four pillars is vital to de-risk and optimize clinical trial design, making it possible to illuminate and accelerate the path to successfully treat and cure SYNGAP1.
“At SRF, we’ve built a reputation as a trusted partner, forging strong alliances with academic institutions and pharmaceutical companies to accelerate SYNGAP1 research. Together, we’re putting SYNGAP1 on the map and driving progress toward a cure. Collaboration and open communication are at the heart of our approach, enabling us to exchange knowledge, overcome challenges, and move faster—because we know we can’t do this alone. We deeply value our partners and a shared commitment to changing lives.” – Virginie McNamar, SYNGAP1 parent, SRF President and COO
Activating the SYNGAP1 Patient Community
One of SRF’s most vital achievements has been to grow, educate, support, and activate the SYNGAP1 patient and family community. For Summer Slaught – parent, SRF volunteer, and former Board Member – the organization has been an integral part of her family’s ability to navigate living with SYNGAP1. “SynGAP Research Fund has provided our family with a wealth of knowledge and a positive community that is supportive, caring, engaged, and available to one another.”
The inevitable feelings of isolation and overwhelm that occur during a rare disease diagnosis are often exacerbated by difficulties accessing essential supports and resources under significantly strained systems, as well as a shortage of accessible information that may translate to potentially life-changing opportunities for patients and meaningful connections for families and caregivers. Recognizing that a robust patient community is essential for securing early diagnosis and intervention, building a support network, advancing research and data collection, and increasing advocacy and awareness, continues to be the catalyst for SRF to prioritize building a strong, resilient, collaborative SYNGAP1 community with worldwide reach.
By investing in and mobilizing the power of social media, awareness campaigns, informative webinars and weekly podcasts, newsletters, census collaboration with international partners, family zoom calls, in-person meet-ups, a state Ambassador program, securing an ICD-10 code, and organizing an annual conference, SRF is determined to include every single SYNGAP1 patient, these courageous warriors who are the very heartbeat of SRF, and are the purpose behind everything it does and stands for.
“It’s truly incredible to witness the collective effort and commitment to a common goal. Volunteering with SRF has not only been a lifeline for my family, but also a pathway to impact the lives of countless others affected by rare diseases,” says Corey Baysden, parent and SRF Community Activation Director.
Advocating and Engaging in Public Policy
Harnessing the power of the unique strengths and collective voices of the SRF community has propelled the organization to become a powerhouse in rare disease advocacy, providing critical representation at public policymaking tables. Through state-specific resources, direct patient advocacy, engaged leaders driving meaningful change, advocacy training opportunities for families, and participation in EveryLife Foundation’s Community Congress, SRF uses its expanding platform to ensure the experiences of patients and families living with SYNGAP1 are heard and heeded.
SRF’s Ambassadors and Advocates Program serves a vital role in fostering a supportive environment. Ambassadors welcome newly diagnosed families to ensure they know they are not alone, providing resources and basic information to those who are just learning what SYNGAP1 is and how their lives have changed overnight. For those seeking assistance in navigating often complex state programs, state advocates assist in connecting families to state-specific services, as well as provide guidance in developing an Individualized Education Program (IEP).
For Jackie Kancir, parent and SRF Patient Advocacy Director, a better life tomorrow for those living with SYNGAP1, begins with fearlessly advocating for change today. “Advocates are indefatigable dreamers who reject despair in the face of inequity. By breaking barriers and transforming the remnants of dismantled injustice, they lay the foundation of smoother pathways for generations to come.”
As a marginalized and vulnerable population, the rare disease community – and those living with SYNGAP1-related disorders in particular – deserves nothing short of accurate representation of its diverse and affected population. “The SynGAP Research Fund believes that diverse perspectives enhance our research efforts. We are committed to ensure that all individuals, regardless of their background, have access to resources, opportunities, and support in our pursuit of advancing treatments for and understanding of SYNGAP1,” says Victoria Arteaga, Director, SRF Latin America.
Raising Funds and Building Community
There is a determined and hopeful parent, caregiver, and loved one behind every dollar raised for SRF. A beloved patient inspires every fundraiser initiated, every event organized. Each goal declared, reached, and surpassed is driven by the dream of finding treatments and a cure for SYNGAP1-related disorders. Thanks to the tireless efforts of families, volunteers, donors and collaborators, that dream is quickly approaching reality, as SRF prepares for the inevitability of clinical trials, closer now than ever before.
Eric Moulton, a parent who serves on the SRF Board of Trustees, knows firsthand the hard work it takes to bring a fundraising vision to life. “Although planning for and hosting the (Sprint4Syngap) event was physically and emotionally taxing, it was undoubtedly a success. We strengthened our local SYNGAP1 community, raised awareness about SRD, and most importantly, raised funds to help accelerate therapies for our kids.”
For many in the community, connection is often virtual, as families remain busy with providing care for their loved ones with SYNGAP1 – medical appointments, evidence-based therapies and interventions, advocating for individualized education programs, managing maladaptive behaviors, and negotiating a minefield of applications and wait-lists for desperately needed services, supports, and resources. These make up a full-time job with endless overtime hours and little to no respite in sight. It is once a year, at the Annual SRF Conference, where patients and families can finally meet in person – often for the very first time – and feel the full power and unconditional support of the organization and the SYNGAP1 community. Demonstrating the power of combining scientific innovation with patient and family connection, each conference fosters a brighter future for those impacted by SYNGAP1.
Looking Ahead
If there’s one takeaway from SRFs inaugural Impact Report, it’s that another will undoubtedly follow. What better way to proudly display the substantial merits and verifiable performance of this little engine that could than with an all-access, behind-the-scenes results portfolio. Since its founding in 2018, SRF has proven it doesn’t waste time, resources, or money, a game plan that’s thrust its vision well beyond an earnest pledge and manifested its mission into sustainable and thriving action.
The future? According to SRF, it’s already here, less bleak and more hopeful than ever, as it races towards the next finish line, fueled by the SYNGAP1 patients it’s vowed to save, supported by the families who believe it.
About SYNGAP1-Related Disorders (SRD)
SYNGAP1-related disorders (ICD-10 F78.A1) is a rare genetic disorder caused by variants on the SYNGAP1 gene that reduce SYNGAP1 protein levels. SRF has identified over 1,530 patients to date, and the number grows weekly. This protein acts as a regulator in the synapses (where neurons communicate with each other). When SYNGAP1 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 SYNGAP1 patients.
Symptoms of SRD include primarily neurological issues including autism spectrum disorder (ASD), intellectual disability, epilepsy, hypotonia (low muscle tone), gross and fine motor delays, global developmental delay, and visual abnormalities such as strabismus (crossed eyes) as well as gastrointestinal challenges and disordered sleep.
About the SynGAP Research Fund
The mission of the SynGAP Research Fund (SRF) dba Cure SYNGAP1 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. There are sister organizations founded by local families in the UK in 2020, Europe (Netherlands) in 2022, as well as both Australia & Latin America (Colombia) in 2023.
Completely family-led, SRF is a leading funder of SYNGAP1 research having committed over $6.2 million in grants to date. SRF’s grant program awards one or two-year 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.
For more on SRF, visit cureSYNGAP1.org or follow @cureSYNGAP1 on LinkedIn, YouTube, Instagram, Facebook, TikTok, or X.
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, American Brain Coalition, Genetic Alliance UK, Rare Disease UK, Syndromes Without a Name (SWAN UK), Jumpstart Program, Patient Worthy, Autism Brain Net, Innovation and Value Initiative, Rare Disease Diversity Coalition, Cambridge Rare Disease Network, Breaking Down Barriers, Rare-X, Mencap, IndoUSRare, and The World Orphan Drug Congress.