image: Dr. Ryan Dhindsa of Baylor College of Medicine leads the analysis of plasma proteomics data generated through a collaboration with the COMBINEDBrain biorepository and Baylor’s Human Genome Sequencing Center. The project aims to identify blood-based biomarkers to improve diagnosis, monitoring, and clinical trial readiness for SYNGAP1-Related Disorders.
Credit: Dr. Ryan Dhindsa, COMBINEDBrain, Baylor College of Medicine Human Genome Sequencing Center (HGSC), CURE SYNGAP1
Mill Valley, CA – March 9, 2026 – CURE SYNGAP1 (fka SynGAP Research Fund), a 501(c)(3) patient-led organization, has announced a $53,569.00 grant to Dr. Ryan Dhindsa, MD, PhD, of Baylor College of Medicine. The funding is part of a larger biomarker project initiated by CURE SYNGAP1 to drive significant advancements in the diagnosis, monitoring, and treatment evaluation for SYNGAP1-Related Disorders (SRD). The Baylor College of Medicine Human Genome Sequencing Center contracted the OLINK assay for $36,578.45. The project was possible because of SRD community blood donations and consent for research use, for which we are grateful. The SRD biorepository is hosted by COMBINEDBrain. The project included samples from 76 participants, including plasma from 32 SRD patients and 44 family controls.
The data for this project was generated at Baylor’s HSGC using the Olink Explore HT platform, with simultaneous measurement of more than 5,000 proteins in plasma samples. a breakthrough approach that seeks to identify reliable blood-based biomarkers for SRD. Plasma biomarkers are highly sought after for multiple uses, and candidates found in this project may provide progress or insights into disease mechanisms, disease progression and prognosis, diagnostics, or clinical trial readiness.
The SRD patient and family control blood samples are collected, stored at and shipped from the COMBINEDBrain biorepository. The CURE SYNGAP1 partnership with COMBINEDBrain provides an essential foundation for initiating our own investigational projects.
Why We Supported This Project
CURE SYNGAP1 is deeply committed to advancing innovative research that directly impacts families living with SRD. Developing effective treatments and precise monitoring tools is vital to improving patient outcomes and enhancing quality of life.
Blood-based biomarkers represent a transformative opportunity in this effort. While no single biomarker is likely to address every need, the discovery of multiple biomarkers can provide invaluable tools for specific contexts such as diagnosis, monitoring disease progression, and evaluating therapeutic efficacy. This project aims to bring objective, real-time data into clinical care, supporting earlier diagnoses, personalized treatment plans, and better evaluation of therapies. For families, this means not only improved care but also hope for a brighter future.
Past Work by Recipient or Similar Work by Others
Dr. Ryan Dhindsa has established himself as a trailblazer in the fields of proteomics and genetic analysis. His landmark study, published in Nature (2023), demonstrated the transformative power of plasma proteomics by linking rare genetic variants to measurable changes in protein levels. Drawing on data from nearly 50,000 individuals in the UK Biobank, Dr. Dhindsa’s work uncovered thousands of previously unrecognized genotype-protein associations.
This breakthrough framework has paved the way for understanding rare and complex disorders through the lens of proteomics. By applying this expertise to SRD, Dr. Dhindsa is positioned to deliver impactful findings, using cutting-edge techniques to identify biomarkers that could revolutionize clinical care and therapeutic development for this underserved community.
Collaborative Perspectives on Advancing SYNGAP1 Biomarker Research
“Our partnership with COMBINEDBrain has allowed CURE SYNGAP1 to initiate a project of this scope and importance,” says Virginie McNamar, Chief Operating Officer at CURE SYNGAP1. “The questions we have about the disorder have answers in our children. We are proud to have so many members of our community donating blood samples and providing consent to use for research. Participation fuels the work.”
Kathryn Helde, PhD, CURE SYNGAP1’s Chief Scientific Officer and lead of the biomarker project, shared her excitement about the collaborative nature and significance of this initiative. “It is especially exciting to be at the center of this project, between the SYNGAP1 biorepository at COMBINEDBrain, the Olink assay run at Baylor’s Human Genome Sequencing Center, and the analysis of the data run by Dr. Dhindsa’s group,” Dr. Helde explained. “This project is the first large internally-driven project that CURE SYNGAP1 has initiated. I am proud that CURE SYNGAP1 has the bandwidth to look for the answers to the questions we find most urgent. We are focused on Clinical Trial Readiness.”
Beyond the research itself, Dr. Helde acknowledged the vital role of advocacy and the families who make such work possible through their participation in the COMBINEDBrain biorepository. “Working with the COMBINEDBrain biorepository is an important and powerful act of advocacy. Thank you to all the families donating blood samples. They are literally building the experiments that can be done.”
“I am excited and honored to receive this grant from CURE SYNGAP1, which will enable us to leverage cutting-edge proteomics approaches to understand SYNGAP1-Related Disorders,” said Dr. Dhindsa. “By identifying blood-based biomarkers, we hope to provide a less invasive and more precise diagnostic tool that could significantly improve patient care and accelerate therapeutic development. This research not only builds on our prior work in plasma proteomics but also represents an opportunity to make a tangible difference for families affected by this rare and challenging condition. We are grateful for the trust placed in us and are excited to contribute to advancing science for the SYNGAP1 community.”
“Since the establishment of COMBINEDBrain, one of our top priorities has been to support biomarker work for the scientific communities,” stated Anna Pfalzer from COMBINEDBrain. “The most clear cut way to support this initiative was to establish a patient-owned biorepository that allows us to collect and distribute patient samples at the discretion of their patient Foundation. This has really expedited the availability and use of these critical samples. Dr. Dhindsa’s analysis of this cross-sectional proteomics dataset will provide really valuable insights into select protein targets to validate in a future, longitudinal study of SYNGAP1-Related Disorders.”
Family Donations Make Progress Possible
“The generosity and commitment of families supporting this work is truly inspiring,” said Dr. Dhindsa. “Their contributions ensure that researchers can continue to push the boundaries of what’s possible in understanding and treating SYNGAP1-Related Disorders. It’s a privilege to collaborate with such a dedicated community, and we are committed to translating these efforts into meaningful outcomes for patients.”
“The commitment of families drives our mission forward, providing the critical resources needed to advance groundbreaking research,” said Suzanne Jones, Chair of the CURE SYNGAP1 Board of Trustees. “These donations are a testament to the power of community in creating meaningful change for those living with SYNGAP1-Related Disorders.”
About Dhindsa Lab
The Dhindsa Lab at Baylor College of Medicine focuses on how genomic variation influences human health, particularly in neurological disorders. Our multidisciplinary research program combines cutting-edge proteomics, population genetics, human stem cell models, and functional genomics to investigate the genetic mechanisms underlying complex diseases and identify novel therapeutic targets.
We have led the analysis of hundreds of thousands of human genomes, uncovering the critical role of rare variants in complex diseases and identifying new risk genes for conditions such as epilepsy, Parkinson’s disease, and neurodevelopmental disorders. Complementing these efforts, our group develops advanced statistical and machine learning methods to enhance the interpretation of genetic variation and its functional consequences. Our research integrates proteomics to explore protein-level changes and biomarker identification, enabling a deeper understanding of disease mechanisms and therapeutic response.Through collaborations with academic institutions, industry partners, and patient advocacy organizations, we aim to translate our discoveries into targeted therapies and advance precision medicine for rare and complex diseases.
Dhindsa, R. S., et al. (2023). Rare variant associations with plasma protein levels in the UK Biobank. Nature, 622(7982), 339–347. https://pubmed.ncbi.nlm.nih.gov/37794183/
About COMBINEDBrain Biorepository VIA
The COMBINEDBrain Biorepository is governed by individual patient advocacy groups, including CURE SYNGAP1. The repository stores biofluids such as blood, cerebrospinal fluid, dried blood spots, urine, saliva, fresh CNS and non-CNS tissue and post-mortem tissues. The biorepository provides special services such as the culture of fibroblasts from skin biopsies and processing of peripheral blood mononuclear cells (PBMCs), and the reprogramming of these samples into induced pluripotent stem cells (iPSCs) and differentiation into various cell types of interest. Collection of biofluids and tissues are accompanied by a variety of phenotypic assessments to evaluate different aspects of development.
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 for grant funding. Our programs 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. CURE SYNGAP1 has funded over $628K in SBOM grants.
All therapeutics must show efficacy to be available to patients. The SYNGAP1 Biomarkers and Endpoints program invests in methods to discover, create and validate measures for use in clinical trials. Treatment efficacy is shown by seeing a measurable change that correlates with a meaningful outcome of health.
Endpoints are the specific measurable changes chosen for Clinical Trials. Biomarkers and clinical measures are changes that can be tabulated and correlate with a meaningful aspect of disease. Biomarkers include detection of molecules or other biological phenomena (e.g. a protein or RNA level in blood or CSF, signal in EEGs or actigraphy data). Clinical measures and Patient- and Caregiver-Reported Outcomes measure changes that can be observed. While we focus on developing biomarkers for treatment efficacy, other uses include diagnostics, treatment progression, subtype delineation, and more.
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.