Mill Valley, CA – June 3, 2026 – CURE SYNGAP1 501(c)(3) is pleased to announce a $130,000 grant to Dr. Helen Willsey and Dr. David Kastner at the University of California, San Francisco (UCSF) . This funding extends Dr. Willsey’s identification of SYNGAP1’s role in cilia formation to investigate how its disruption impacts brain anatomy and behavior, potentially leading to more precise therapies for patients with SYNGAP1-Related Disorders (SRD).
Building on previous discoveries that SYNGAP1 protein localizes to both primary and motile cilia, the research will use rodent models to investigate the link between SYNGAP1 protein deficiency, cilia dysfunction, and the diverse clinical symptoms seen in SRD patients, including intellectual disability, gastrointestinal issues, and behavioral changes. The work spans analysis from subcellular ciliary phenotyping to behavioral characterization in genetically modified rats with two different alterations to the Syngap1 gene. Investigation and analysis will be done with an eye towards informing rational drug design.
CURE SYNGAP1 is committed to improving the lives of all SRD patients. SYNGAP1-Related Disorders include many symptoms that may not solely result from cortical synaptic plasticity deficits. Moreover, it is increasingly clear that SYNGAP1 expression extends beyond the brain. Findings outlined in Dr. Willsey’s preprint on bioRxiv underscore the importance of addressing the multifaceted impact of SYNGAP1 mutations. This preliminary data offers a compelling path forward, providing deeper insights into the diverse roles that SYNGAP1 protein plays in the body. Her work has the potential to broaden the range of tissues targeted by therapies, addressing many unmet medical needs affecting our patients. By uncovering previously overlooked functions of the SYNGAP1 protein, this project will also help us mitigate unintended consequences of future therapies. Additionally, her research will aid in categorizing missense variants by their functional characteristics, which is crucial for identifying the most effective precision medicine strategies for each variant.
Dr. Helen Willsey’s lab at UCSF has made significant advances in understanding SYNGAP1 protein functions beyond the synapse. Her research, using Xenopus models , uncovered SYNGAP1 protein’s critical role in ciliogenesis, providing crucial insights into how SYNGAP1 mutations affect both neural and non-neural tissues. These groundbreaking findings form the foundation for her current work, which now extends into rodent models, aimed at investigating how SYNGAP1 mutations impact brain structure and broader systemic functions.
“We have been giving grants for eight years, Dr. Willsey sets the bar for collaboration, productivity, brilliance and actually listening to patient families. She is simply exceptional. The SYNGAP1 community is very lucky to work with her and those in her lab” said Mike Graglia , Founder and CEO, (who generally always has some constructive feedback for grantees).
Dr. Helen Willsey shared her gratitude for the support provided by CURE SYNGAP1, stating, “We are immensely grateful for the generous support provided by [CURE SYNGAP1], which empowers us to delve deeper into the intricacies of SYNGAP1 function across a wide range of organs and tissues, and how this manifests behaviorally. This funding serves as a catalyst for our multidisciplinary team of researchers, and the findings generated through this research have the potential to inform the development of targeted therapies, paving the way for more effective treatments and improved patient outcomes.”
Dr. Matthew State, MD, PhD , Oberndorf Family Distinguished Professor and Chair of UCSF’s Department of Psychiatry and Behavioral Sciences, highlighted the significance of Dr. Willsey’s work: “Dr. Willsey’s research has been instrumental in expanding our ability to identify high-confidence, large-effect risk genes for psychiatric disorders such as autism spectrum disorder , Tourette disorder, and obsessive-compulsive disorder. I am confident that, in partnership with CURE SYNGAP1, her lab will make an equally large impact on our understanding and treatment of SYNGAP1-related conditions.”
Kathryn Helde, PhD , Chief Scientific Officer for CURE SYNGAP1, added excitement about addressing the unmet need of relieving patients and families from debilitating behaviors. “This research includes analyzing the rich social behaviors seen in rats, and comparing them to rat models of SRD. The chance to identify specific targets for drugs that improve behaviors is one of our top priorities .”
“Research like Dr. Willsey’s is exactly what our community needs right now,” said Suzanne Jones , Chair of the CURE SYNGAP1 Board of Trustees. “It’s focused on solving the everyday challenges families face and offers real hope for improving quality of life. This work shows the impact we can have when science and community support come together.”
The Helen Willsey Lab studies genes that cause rare neurodevelopmental disorders, with an eye towards illuminating core, actionable pathobiology to help those affected. To accomplish this goal, we use a range of model organisms (frogs, flies, and rats), as well as human cell culture systems (HEK293T, RPE-1, and iPSC-derived neurons).
Description from Institution The University of California, San Francisco (UCSF) is exclusively focused on the health sciences and is dedicated to promoting health worldwide through advanced biomedical research, graduate-level education in the life sciences and health professions, and excellence in patient care.
The UCSF Weill Institute for Neurosciences leverages UCSF’s unrivaled bench-to-bedside excellence in the neurosciences to solve some of the most complex challenges in the human brain. It unites three UCSF departments—Psychiatry and Behavioral Sciences, Neurology, and Neurological Surgery—that are highly esteemed for both patient care and research, as well as the Neuroscience Graduate Program, a cross-disciplinary alliance of nearly 100 UCSF faculty members from 15 basic-science departments, and the UCSF Institute for Neurodegenerative Diseases, a multidisciplinary research center focused on finding effective treatments for Alzheimer’s disease, frontotemporal dementia, Parkinson’s disease, and other neurodegenerative disorders.
SYNGAP1-Related Disorders ( ICD-10 F78.A1 ) are a rare genetic disorder caused by variants on the SYNGAP1 gene that reduce SYNGAP1 protein levels. CURE SYNGAP1 has identified over 1,761 SRD 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 SRD patients.
Symptoms of SRD include primarily neurological issues including autism spectrum disorder (ASD), global developmental delay leading to intellectual disability, epilepsy, hypotonia (low muscle tone), gross and fine motor delays,, and visual abnormalities such as strabismus (crossed eyes) as well as disordered sleep and gastrointestinal challenges.
CURE SYNGAP1’s grant program awards pilot, one-year and two-year grants to researchers and clinicians studying SYNGAP1. Basic, clinical and translational research are funded to fulfill the mission of accelerating the availability of safe and effective therapies and cures for all people living with SYNGAP1-Related Disorders. This blog describes seven categories of funding that comprehensively cover all grants awarded. Current funding priorities include essential milestones for clinical trial readiness.
Founded in the US in 2018 as a 501(c)(3) public charity, CURE SYNGAP1 is dedicated to accelerating the availability of safe, effective, disease-modifying treatments for everyone living with SYNGAP1-Related Disorders (SRD). The same mission is shared by the CURE SYNGAP1 Collective , a global collaboration of 10 member organizations—including Syngap1 Argentina, SynGAP Research Fund Australia, SynGAP Research Fund EU, SYNGAP1 India, Fondo de Investigación SynGAP (Latin America), Razem dla Syngap1 (Poland), ASSOCIAÇÃO CSP (Portugal), SYNGAP1 España, Syngap1 UK.
By working closely with patients, clinicians, researchers, and regulatory authorities, we ensure clinical programs are scientifically rigorous and responsive to our community’s lived experience. As of December 31,2025, CURE SYNGAP1 has committed over $8 million in research grants to drive progress toward a cure. See past Impact Reports and Annual Reports at cureSYNGAP1.org/Impact .
For more on CURE SYNGAP1, visit cureSYNGAP1.org ; subscribe to the CURE SYNGAP1 Podcast , SYNGAP1 Stories , and Café SYNGAP1 ; and follow @cureSYNGAP1 on LinkedIn , YouTube , Instagram , Facebook , TikTok , or X .
CURE SYNGAP1 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 , The World Orphan Drug Congress , and Research America .