Kathryn Helde, PhD is the Chief Scientific Officer (CSO) and MedSci (Medicine/Science) Director of CURE SYNGAP1 (fka SynGAP Research Fund). Kathryn is mother to 24-year-old Joey, who was diagnosed in 2017 with SYNGAP1-Related Disorders.
Executive Summary
The top three grant funding priorities in 2026 are understanding SYNGAP1 genetics; SYNGAP1 functions; and SYNGAP1-Related Disorders (SRD) irritability, and the more intense aggressive behaviors – ranging from self-injury to outwardly directed violence. These categories cover the most pressing questions that support our mission for clinical trial readiness and reducing suffering for all living with SRD and their families.
Our Priorities
Whether you are a researcher, a donor, a family living with SYNGAP1-Related Disorders (SRD), or a Pharma CFO, we are excited to share our funding priorities for 2026. Over its 7-1/2 year history, CURE SYNGAP1 has committed over $8M USD and distributed over 75 grants to accelerate the availability of gene-based medicines and reduce suffering in SRD patients and their families. With the first SYNGAP1 gene-specific medicines expected to be in patients within a year, it is time for CURE SYNGAP1 to pivot from an expanding role in grant topics to a laser-focused set of goals.
GENETICS: We are determined to find more SRD patients, because the care of the patients depends on being found. How can we find the undiagnosed SRD patients?
Specific questions we believe will get us closer are:
- How many SRD patients are predicted using new large sequence databases? We ask this based on a 2020 paper from Lopez-Riviera, Lal, and others.
- How can we improve rates of categorization of VUS into pathogenic and benign? Clinvar
BEHAVIORS: The harsh reality is that SRD is a difficult disorder that grows over time. While lack of sleep, difficulty feeding, and intractable seizures are all terrible challenges, behaviors can break families and put patients at increased risk for mistreatment and abuse. While every family might not experience the same intensity or frequency of aggression, violence and self-injury, those of us who have lived through it are determined to minimize future suffering to patients, siblings, parents, and caregivers.
We want to know:
- Which drugs and treatments are effective for the disabling behaviors in SRD?
- Which biological mechanisms of action are responsible for behaviors in SRD?
SYNGAP1 FUNCTIONS: With precision medicines in our sights, a deeper understanding of where the medicines need to be delivered to improve health is more important than ever. SYNGAP1 has multiple functions, is present in multiple cell types and tissues, and it is possible that not all of these functions are disrupted when 50% of the protein is present.
Questions that are under investigation that we want clearer answers on include:
- Which functions of SYNGAP1 contribute to the disease presentation (phenotype)?
- Which isoforms of SYNGAP1 are responsible for those functions?
- Where in the body must SYNGAP1 therapeutics be to improve those functions?
- What is the disease model for each pathogenic missense variant?
Our grant funding program will place priority on answering the eight questions above and related issues.
Context for Current Priorities
In 2026, we are standing on the edge of a personal and medical revolution. We are close to having something that has been an idea, a wish, a prayer, but not a physical reality. For families living with SYNGAP1-Related Disorders (SRD), the hope for a “precision” cure—one that fixes the root cause of the condition—is about to materialize. In fact, at least one advanced gene-based medicine (CMP-002 CAMP4 Therapeutics) is planned to begin testing in SRD patients across the globe in about a year’s time. How did this happen? Many people, from academic, clinical and industry leaders, patient advocates and non-profit entities, have worked to get to this point.
At CURE SYNGAP1 (fka SynGAP Research Fund), our initial goals of supporting SYNGAP1 science broadly, bringing in new researchers and clinicians, and getting SYNGAP1 therapeutics into the pipelines at multiple biotech and pharmaceutical companies have all been met. During 2025, with your donations, CURE SYNGAP1 committed a record $2M toward preclinical and clinical research for SYNGAP1. We also just pulled off an exciting annual science conference to an overflowing ballroom. On the cusp of all this success, the Board and Leadership Team agree that this is the time for CURE SYNGAP1 to pivot from an expanding role in grant topics to a laser-focused set of priorities.
Our priorities come directly from our mission statement: Accelerate the availability of safe, effective, targeted therapies and cures for everyone with SYNGAP1-Related Disorders, and to reduce suffering for patients and their families. Priorities 1 and 3 support therapeutic success and priority 2 supports treatments for behaviors, the community’s current biggest unmet need.