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 research has the potential to increase understanding of GNAO1 genetic disorders and may ultimately lead to new or better 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.
Perlara is the first biotech public benefit corporation (bioPBC) that discovers definitive treatments for rare diseases and learns how genes work across diseases to map connections to common ailments. Perlara embarks on journeys of scientific discovery called PerlQuests™ with families, patient organizations and BioPharma and clinical partners. The PerlArk™ Platform creates disease models using simple animals that share genetic similarity with humans, allowing screening of massive numbers of disease models and drug candidates quickly and at low cost.
In March of 2018, Perlara announced a collaboration with Harvard Medical School and the Undiagnosed Diseases Network to launch a PerlQuest for GNAO1 related neurodevelopmental disorders.