Research

Advancing GNAO1 Research: Bow Foundation’s Commitment

The Bow Foundation remains dedicated to funding groundbreaking research aimed at better understanding and treating GNAO1-related neurodevelopmental disorders. Since its inception in 2017, the foundation has supported over $1.1 million+ in GNAO1 research. Some of the impactful studies receiving funding include:

Ongoing & Recent Research Initiatives

2025

• Pilot Clinical Trial for Caffeine Citrate Therapy ($100,000)
  Lead Researcher: Dr. Serena Galosi, Sapienza University of Rome
  A collaborative team of GNAO1 researchers will investigate caffeine citrate’s ability to control GNAO1-related dyskinetic crises. These crises are sudden, severe episodes where patients experience intense, uncontrollable muscle movements. This study combines preclinical research in animal models with a clinical trial to provide scientific evidence for caffeine citrate as a first-line treatment option.
• Second-Generation AAV Gene Therapy Development ($100,000)
  Lead Researcher: Dr. Miguel Sena-Esteves, University of Massachusetts
  This study utilizes gene silencing and replacement strategies to enable efficient brain-wide gene therapy delivery, paving the way for future clinical trials in GNAO1 therapy.
• CRISPR-Based Gene Therapy for GNAO1 ($100,000)
  Lead Researcher: Dr. Blair Leavitt
  Using patient-derived stem cells and a specialized mouse model, this research aims to develop a targeted gene therapy correction for the R209H GNAO1 mutation. Lipid nanoparticle (LNP) technology will refine gene-editing delivery methods for clinical applications.
• Chaperone Therapy for GNAO1 Disorders ($100,000)
  Lead Researcher: Dr. Patrick M. Giguère
  Using machine learning, computational modeling, and biochemical lab work, this study focuses on identifying small-molecule chaperones to stabilize and restore mutated Gao protein function. The study offers a promising disease-modifying treatment for GNAO1.
• Exploring Disulfiram as a Potential Treatment ($100,000)
  Lead Researcher: Dr. Vladimir Katanaev
  This project investigates disulfiram, a repositioned FDA-approved drug, for GNAO1 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 ($38,000)
  Lead Researcher: Dr. Erika Axeen, University of Virginia
  This study is designed to improve diagnostic accuracy, identify genotype-phenotype correlations, and refine personalized therapeutic strategies for GNAO1 epilepsy patients.

2023

• Preclinical GNAO1 Treatment Trial ($100,000)
  Lead Researcher: Dr. Jennifer Friedman, University of California San Diego & Rady Children’s Hospital
  Partnering with the n-Lorem Foundation, this study supports experimental antisense oligonucleotide (ASO) medicine targeting GNAO1. Funding will help assess clinical responses and determine the viability of ASO treatments for broader patient use. Read more.
• Explore Dystonia Mechanisms ($100,000)
  Lead Researcher: Prof. Kirill Martemyanov, University of Florida Scripps Institute
  This research uses a mouse model to investigate how GNAO1 influences dystonia—characterized by involuntary muscle movements—and explores potential treatment strategies. More details.
• iPSC Research & Personalized Treatments ($100,000)
  Lead Researcher: Dr. Harald Mikkers, Leiden University Medical Center, Netherlands
  Funding supports stem cell modeling to enable drug screening efforts and enhance understanding of GNAO1’s impact on neurons. Learn more.

2021

• Gene Therapy Advancements at UMass ($183,000) (+$100,000 extension in 2023)
  Researchers: Dr. Miguel Esteves, University of Massachusetts & Dr. Richard Neubig, Michigan State University
  Working to develop GNAO1 gene replacement therapies, researchers aim to refine treatment strategies using mouse models. Read about this study.
• Natural History Study at Washington University ($63,000)
  Lead Researcher: Dr. Amy Viehoever
  Research clinic funding aids in long-term tracking of GNAO1’s progression to improve clinical outcomes. More details.
• Medical Records Collection Project at UVA ($50,000)
  Lead Researcher: Dr. Erika Axeen at the University of Virginia will work to advance the medical community’s understanding of GNAO1 by analyzing patient data and identifying trends from the ongoing GNAO1 International Patient Registry, linking this research effort with the ongoing Natural History study.
• Postdoctoral Fellowship in the Katanaev Lab ($50,000)
  Lead Researcher: Dr. Jana Valnohova, at the University of Geneva, Switzerland, worked to shine new light on how different GNAO1 mutations affect the individual action of cells.

Other Major Funding

2020

• Zebrafish Drug Discovery Program at UCSF ($100,000)
  Lead Researcher: Dr. Scott C. Baraban
  This pioneering project focuses on GNAO1 loss-of-function models to uncover new therapeutic options. Published results.
• Postdoctoral Fellowship at Scripps ($50,000)
  Lead Researcher: Dr. Brian Muntean
  Investigates GNAO1’s role in brain signaling to provide deeper insights into movement disorders. Read more.

2018

• Michigan State Mouse Model Study ($48,000)
  Aims to test existing drugs and identify potential new treatments. Published research.
• GNAO1 International Registry (Launched in 2018)
  Lead Researcher: Dr. Erika Axeen, University of Virginia
  Designed to accelerate medical research by compiling real-world patient data. Published results.
• Stanford Research on Adaptive Behaviors in Children
  Open to all GNAO1 families, this study collects critical patient data to establish treatment response metrics. Participate here.

2017

• Creation of GNAO1 Induced Pluripotent Stem Cells (iPSCs) ($100,000)
  Lead Researcher: Dr. Michael McConnell at the University of Virginia created the first GNAO1 iPSCs to better understand GNAO1.

With ongoing funding and support, the Bow Foundation continues to push the boundaries of rare disease research, ensuring hope for patients and families worldwide.