Charlottesville, VA – The Bow Foundation is awarding $540,000 in grants to fund six groundbreaking research projects aimed at advancing medical understanding and treatment options for GNAO1-related disorders, a rare neurological genetic condition. This grant program is administered in collaboration with the Orphan Disease Center at the University of Pennsylvania.
To date, more than 400 children and adults worldwide have been diagnosed with a GNAO1-related disorder, experiencing symptoms such as severe developmental delays, seizures, and uncontrolled muscle movements.
“This pivotal investment in GNAO1 research is more than a commitment—it’s a catalyst. It empowers leading scientists to accelerate discovery, deepen understanding, and bring us closer to transformative treatments. Each dollar represents renewed hope for families around the world.” – co-chairs of the Bow Foundation Alice Fox and Emily Bell.
Funded Research Projects
- Pilot Clinical Trial for Caffeine Citrate Therapy
Lead Researcher: Dr. Serena Galosi, Sapienza University of Rome
A collaborative team of GNAO1 researchers, investigating caffeine citrate’s ability to control GNAO1-related dyskinetic crises, this study combines preclinical research in animal models with a phase 2 clinical trial to provide scientific evidence for caffeine citrate as a first-line treatment option. - Second-Generation AAV Gene Therapy Development
Lead Researcher: Dr. Miguel Sena-Esteves, University of Massachusetts
This study utilizes gene silencing and replacement strategies with the innovative BI-hTFR1 capsid to enable efficient brain-wide gene delivery, paving the way for future clinical trials in GNAO1 therapy. - CRISPR-Based Gene Therapy for GNAO1 Encephalopathy
Lead Researcher: Dr. Blair Leavitt
Using patient-derived stem cells and a specialized mouse model, this research aims to develop a targeted correction for the R209H mutation. Lipid nanoparticle (LNP) technology will refine gene-editing delivery methods for clinical applications. - Pharmacological Chaperone Therapy for GNAO1 Disorders
Lead Researcher: Dr. Patrick M. Giguère
Employing machine learning, computational modeling, and biochemical assays, this study focuses on identifying small-molecule chaperones to stabilize and restore mutant Gao protein function, offering a promising disease-modifying treatment for movement disorders and epilepsy. - Exploring Disulfiram as a Potential Treatment
Lead Researcher: Dr. Vladimir Katanaev
This project investigates disulfiram, a repositioned FDA-approved drug, for GNAO1 encephalopathies using biochemical, cellular, and animal model studies to evaluate its efficacy and safety in treating movement disorders and seizures. - Expanding Clinical Understanding of GNAO1 Epilepsy
Lead Researcher: Dr. Erika Axeen, University of Virginia
This study leverages a clinician-validated phenotype database to improve diagnostic accuracy, identify genotype-phenotype correlations, and refine personalized therapeutic strategies for GNAO1 epilepsy patients.
Continuing the Mission
Since its launch in 2017, the Bow Foundation has supported over $1 million in support of GNAO1 research, thanks to the collaboration and dedication of GNAO1 families.
The Bow Foundation is a volunteer-run 501(c)(3) nonprofit, committed to supporting GNAO1 families through research funding and increased awareness. The organization was founded by two families seeking answers and solutions for their children diagnosed with GNAO1 disorders.
Visit www.BowFoundation.org to learn more or donate.