image: Dr. Àlex Bayés Puig, Group Leader of the Molecular Physiology of the Synapse Lab at the Fundació Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau in Barcelona, Spain.
Credit: Dr. Àlex Bayés Puig and CURE SYNGAP1
Mill Valley, CA – January 27, 2016 – CURE SYNGAP1 (fka SynGAP Research Fund), a 501(c)(3) organization, is proud to announce the award of a $25,000 grant to Dr. Àlex Bayés Puig, Group Leader at the Fundació Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau in Barcelona, Spain. Dr. Bayés’s innovative research project explores the potential of using T-cells as a biomarker for SYNGAP1-Related Disorders (SRD).
This research addresses a significant challenge in SYNGAP1 studies: the difficulty of measuring SYNGAP1 protein levels in affected individuals. Since SYNGAP1 protein is predominantly found in the brain, traditional methods rely on expensive, labor-intensive processes like creating neurons from patient cells. Dr. Bayés’s work lays the groundwork for a far more practical solution: a simple blood test capable of detecting SYNGAP1 protein levels. This approach could transform diagnostics and clinical research for SYNGAP1 patients by providing a scalable, non-invasive, and cost-effective tool to monitor the disorder and evaluate potential treatments.
Why We Supported This Project
CURE SYNGAP1 is dedicated to accelerating research that directly benefits SYNGAP1 patients, and Dr. Bayés’s project exemplifies this mission. His team’s innovative approach has already demonstrated that SYNGAP1 protein can be detected in T-cells from neurotypical individuals, breaking through a longstanding barrier in the field. This development overcomes the critical challenge of studying a brain-specific protein without relying on complex and costly techniques, such as generating neurons from patient cells.
A streamlined method for detecting SYNGAP1 protein levels in blood would have the potential to transform diagnostics for SRD. This project aligns seamlessly with CURE SYNGAP1’s broader goal of fostering patient-centered innovation. By focusing on an easily obtainable biofluid like blood, Dr. Bayés is paving the way for scalable and cost-effective solutions that can be implemented across diverse patient populations. His work holds the promise of bridging the gap between research and real-world application, offering new hope to families affected by SYNGAP1.
Building on a Foundation of Innovation in SYNGAP1Research
This work builds upon Dr. Àlex Bayés’s prior success in reliably detecting SYNGAP1 protein in T-cells from neurotypical individuals, overcoming a major obstacle in studying a brain-specific protein using accessible human samples. By leveraging advancements in proteomics and his team’s expertise, Dr. Bayés is expanding this breakthrough to validate its application in individuals with SYNGAP1 mutations. This innovative approach complements global efforts, including biomarker studies funded by CURE SYNGAP1, and represents a critical step toward scalable diagnostics and clinical trial readiness for SRD.
Insights from Researchers and Advocates
Virginie McNamar CURE SYNGAP1 President and Chief Operating Officer said, “The SYNGAP1 global community is ready for any and all progress toward clinical trial readiness. Dr. Bayés’s commitment to find innovative ways to bring answers to clinicians and families shows why we are so proud to work with him.”
“Finding SYNGAP1 protein in the blood is hard. We are lucky to have an experienced and committed researcher in Dr. Àlex Bayés,” says Kathryn Helde, PhD, Chief Scientific Officer for CURE SYNGAP1. “Dr. Bayés is passionate about bringing diagnostics to underserved populations, and the funded work extends decades of work in his lab.”
“Directly monitoring SYNGAP1 protein abundance in affected children will be crucial for clinical research, especially in evaluating new therapies designed to boost SYNGAP1 protein in clinical trials,” said Dr. Àlex Bayés Puig.
Family Donations Make Progress Possible
“As a parent and advocate, I know how urgent this research is for families,” said Suzanne Jones, Chair of the CURE SYNGAP1 Board of Trustees. “Every contribution—big or small—makes a difference in pushing science forward. Dr. Bayés’s work is bringing us one step closer to practical, real-world solutions for SYNGAP1 patients.”
About Dr. Àlex Bayés and Molecular Physiology of the Synapse Lab
Dr. Àlex Bayés is the Group Leader of the Molecular Physiology of the Synapse Lab at the Fundació Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau. His team aims to understand how synaptic proteome organization and dynamics drive synaptic plasticity, shaping cognition and behavior. They also investigate how disruption of these molecular mechanisms contributes to neurodevelopmental disorders. With over a decade dedicated to studying SYNGAP1-Related Disorders, the lab focuses on uncovering its molecular pathophysiology and identifying therapeutic targets.
About Fundació Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau
Located at the Sant Pau Health Campus, the Sant Pau Research Institute is committed to improving health and quality of life through the production of scientific knowledge and healthcare innovation. As one of the most active research centers in Catalonia, it plays a key role in translational research and the application of discoveries to clinical practice.
About SYNGAP1-Related Disorders (SRD)
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 1,707 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), 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 CURE SYNGAP1’s Seven Scientific Programs
CURE SYNGAP1 has seven scientific programs. These programs reflect their urgency to develop disease modifying treatments. These include the following:
- BTS – Basic and Translational Science
- Purpose – Drug Repurposing
- SMART – SYNGAP1 Missense Analysis, Research & Therapeutics
- SBOM – SYNGAP1 Biomarkers & Endpoints
- Facilitate – Develop and Share Patient-relevant Research Tools and Reagents
- SRDC – SYNGAP1-Related Disorders Characterization
- ProMMiS: Prospective Multidisciplinary, Multisite Study for Clinical Excellence – Natural History Study at Multidisciplinary Clinics
This grant falls into the SBOM program. Biomarkers (e.g. in blood, CSF, EEGs, actigraphy) and clinical measures (ORCA, Bayley, etc.) are required to determine treatment efficacy,disease progression, and improve diagnostics. CURE SYNGAP1 has funded over $629K in SBOM grants.
About CURE SYNGAP1
CURE SYNGAP1 improves the quality of life for SYNGAP1 patients through the research and development of treatments, therapies, and support systems.
CURE SYNGAP1 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 (the Netherlands) in 2022, as well as both Australia & Latin America (Colombia) in 2023. Completely family-led, CURE SYNGAP1 is a leading funder of SYNGAP1 research having committed over $8 million in grants as of December 31, 2025.CURE SYNGAP1’s grant program awards pilot, one-year and two-year grants to researchers and clinicians studying SYNGAP1. Their mission is to accelerate the availability of safe and effective treatments that meaningfully modify SRD to reduce suffering for patients and their families. Current funding priorities include essential milestones for clinical trial readiness. You can learn more about CURE SYNGAP1 and their accomplishments by reading their most recent Impact Report.
For more on CURE SYNGAP1, visit curesyngap1.org or follow @cureSYNGAP1 on LinkedIn, YouTube, Instagram, Facebook, TikTok, and X.
CURE SYNGAP1 (fka SynGAP Research Fund) 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.