Rare disease charity awards UCSF $100,000 for epilepsy zebrafish study

January 30, 2020

Charlottesville, VA – The Bow Foundation today announced a grant of $100,000 to the University of California, San Francisco to study GNAO1-related neurodevelopmental disorders, a rare genetic condition with no common name.

Roughly 150 children around the world are known to be impacted by a GNAO1 genetic disorder. Children with the disease suffer from severe developmental delays, seizures and uncontrolled muscle movements.

The UCSF research project will be led by Dr. Scott C. Baraban, Professor and William K. Bowes Jr. Endowed Chair in Neuroscience Research. Using CRISPR-based technology, researchers will generate GNAO1 loss-of-function zebrafish lines to launch a first-of-its-kind GNAO1 zebrafish-based drug discovery program. Through the study, researchers will use these GNAO1 mutant zebrafish to better understand the epilepsy causes associated with GNAO1 disorders and identify potential drug treatments for patients.

“Dr. Baraban’s research gives the promise of hope and greater understanding to the dozens of GNAO1 patients around the world,” Bow Foundation co-chairs Emily Bell and Alice Fox said. “Testing the effect of various drugs in the Baraban lab could open doors to better treatment options for patients. We’re excited to fund this new research project and are thrilled to be working with the University of California, San Francisco. We look forward to gaining new insights and funding additional research as we work to increase GNAO1 awareness and change lives.”

The research conducted by Dr. Baraban’s team will be an “open source” project.  A public database will document which drugs have been screened, and the GNAO1 zebrafish lines will be made freely available to other academic researchers.

Separately today, the Bow Foundation also announced a $50,000 post-doctoral fellowship grant to Dr. Brian Muntean, a researcher in the Martemyanov lab at Scripps Research Institute. Dr. Muntean’s post-doctoral fellowship project will examine the effects that a GNAO1 mutation has on brain signals, which in turn will shine a light on how GNAO1 mutations lead to varied impacts on patients.

These grants are the fourth and fifth major Bow Foundation medical research grants. The foundation previously supported over $200,000 of GNAO1 research including projects at the University of Virginia’s School of Medicine, Michigan State University and Washington University in St. Louis.

The Bow Foundation is a non-profit 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.