Charlottesville, VA – The Bow Foundation today announced a total of nearly $350,000 in grants to fund four projects to advance medical research into GNAO1-related neurodevelopmental disorders, a rare genetic condition with no common name. Collectively, this represents the largest single infusion of research funding into this rare disease.
Approximately 200 children around the world have been diagnosed with a GNAO1–related genetic disorder to date. Children with the disease suffer from a range of symptoms, including severe developmental delays, seizures and uncontrolled muscle movements.
“As scientists work to better understand GNAO1, we’re excited to fund this cutting-edge research and build towards a better tomorrow for our patient community,” Bow Foundation co-chairs Emily Bell and Alice Fox said. “When our children were diagnosed with this rare disease in 2016, the medical community had only just begun learning about the GNAO1 gene and the impact it has on humans. Since then, we’ve worked tirelessly to raise awareness, connect GNAO1 families, fundraise and support new research that shines a brighter light on the disorder. We’re proud to be able to support these new projects and thank our donors for their continued support – which is the key to making all of this possible.”
The newly funded projects include:
- $50,000 to advance the medical community’s understanding of GNAO1.
- Dr. Erika Axeen at the University of Virginia will explore and expand the medical community’s current understanding of this rare disease by analyzing patient data and identifying trends from the ongoing GNAO1 International Patient Registry, linking this research effort with the ongoing Natural History study. The patient registry was established by the Bow Foundation as a way for patients and families to share medical history information to help scientists gain a more accurate understanding of the impacts of the genetic disorder across the patient population.
- $183,000 to explore gene therapy treatments for GNAO1 disorders.
- Dr. Miguel Esteves at the University of Massachusetts Horae Gene Therapy Center and Dr. Richard Neubig’s research team at Michigan State University are partnering on this effort. Together, these industry leaders will lay the groundwork for cutting-edge GNAO1 gene therapy – which could unlock a revolutionary treatment option for this rare disease. Dr. Esteves and Dr. Neubig will work to clarify the diverse impacts of the disease before starting to design and test gene replacement therapies using mouse models. The proposed treatment could either supplement or silence and replace the faulty GNAO1 genes that trigger symptoms in patients.
- $63,000 to expand the GNAO1 natural history study.
- Dr. Amy Viehoever at Washington University in St. Louis will work to address a void in the current understanding of GNAO1 by continuing her work in support of the GNAO1 natural history study. Specifically, she will build on her previous work collecting medical records and performing extensive neurologic evaluations on 44 GNAO1 patients at a combination of in-person and virtual research clinics. Dr. Viehoever will work in collaboration with Dr. Erika Axeen to expand their data collection efforts by building patient participation to better understand how symptoms may evolve as patients get older.
- $50,000 to shine new light on how GNAO1 mutations affect individual cells.
- Dr. Jana Valnohova, a post-doctoral researcher in the Katanaev lab at the University of Geneva, Switzerland, will work to shine new light on how different GNAO1 mutations affect the individual action of cells. This biological research might help explain why GNAO1 impacts certain patients in such different ways, and provide a better understanding of how various treatment options may help.
Including this latest announcement, the Bow Foundation has fundraised and supported more than $750,000 in GNAO1 research since launching in 2017. GNAO1 families and the Bow Foundation worked together to raise funds to support this research.
The Bow Foundation is a volunteer-run 501(c)3 dedicated to supporting GNAO1 families through enhanced research and increased awareness. The foundation was launched in April of 2017 by two families who have children with a GNAO1 disorder. Visit www.BowFoundation.org to learn more or donate.