Rare disease charity awards $50,000 post-doctoral fellowship to Scripps Research Institute researcher

Thursday, January 30, 2020

Charlottesville, VA – The Bow Foundation today announced a grant of $50,000 to Dr. Brian Muntean, a researcher in the Martemyanov lab at The Scripps Research Institute. With this funding, Dr. Muntean will launch a study into 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.

Communication between cells in the brain is important for health and physiology. Unfortunately, the way in which GNAO1 influences signals in the brain is not clear. Dr. Muntean’s post-doctoral fellowship project will focus on trying to understand the mechanism by which GNAO1 influences activity in brain cells. By examining the effects of GNAO1 on modulating brain activity, the proposed studies will help shine a light on how GNAO1 mutations can cause varied patient impacts. By understanding the precise mechanism of GNAO1’s role in how brain cells communicate, this research may be able to provide insight toward understanding therapeutic intervention strategies.

“We’re excited to support Dr. Muntean’s research into GNAO1, which will expand the current GNAO1 body of knowledge give hope to dozens of patients around the world,” Bow Foundation co-chairs Emily Bell and Alice Fox said. “Key questions need to be answered as we pursue an eventual cure for GNAO1. Dr. Muntean will play an important role in helping answer some of those questions and start unraveling the mystery of GNAO1.”

Separately today, the Bow Foundation also announced a $100,000 grant to the Baraban Lab at the University of California, San Francisco. Researchers at the Baraban Lab will produce zebrafish with a GNAO1 mutation to launch a first-of-its-kind GNAO1 drug discovery program. Through the study, researchers will use these mutant zebrafish to better understand the epilepsy causes associated with GNAO1 disorders and identify potential drug treatments for 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.