GNAO1 (G Protein Subunit Alpha O1) is a Protein Coding gene. Some of the individuals with mutations on the GNAO1 gene suffer from seizures associated with early infantile epileptic encephalopathy-17 others have mild to severe movement disorders all seem to have some form of developmental delay. To date, 60 people worldwide have been identified as having a mutation on the GNAO1 gene.
Annabelle's Amazing Graces is partnering with the Bow Foundation to support GNAO1 research grants. Below are the most recent grants.
In August of 2017, the Bow Foundation funded a $100,000 research grant to the University of Virginia to support a GNAO1 – related neurodevelopmental disorder study led by Dr. Michael McConnell. Using a tiny skin sample from two GNAO1 patients, Dr. McConnell created induced pluripotent stem cells (iPSCs) to better understand subtle differences between GNAO1 patients and better understand how GNAO1 disorders respond to certain drug treatments.
The second grant of $50,000 was made in the winter of 2018.
In June of 2018, the Bow Foundation funded a $48,000 research project at Michigan State University to support a study of mouse models with GNAO1-related neurodevelopmental gene mutations. Through the study, researchers will gather more information about GNAO1, test existing drugs, and identify possible new treatment options. The research project will be led by Dr. Richard Neubig, Chair of Michigan State’s Department of Pharmacology & Toxicology.
$100,000 Grant Recipient - University of California, San Francisco (UCSF)
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.
$50,000 Post-Doctoral Fellowship Recipient - Scripps Research Institute
Dr. Brian Muntean, a researcher in the Martemyanov lab at The Scripps Research Institute, 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.
A short film put together about GNAO1 families!