University of Virginia Research Project

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.

To read more about the grant, click here. The second grant of $50,000 was made in the winter of 2018.

Michigan State University Research Project

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.

Click here to read more about the grant announcement.

GNAO1 PerlQuest

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.

The Bow Foundation is proud to be a Community Partner for the GNAO1 PerlQuest.

Visit the GNAO1 PerlQuest page to learn more and see updates on the research collaboration.

Stanford Research Project

GNAO1 families have been invited to participate in a research study of adaptive behaviors in children with early life epilepsy. The study is open to all GNAO1 patients, even those who do not have epilepsy. Stanford Children’s Health is working to develop a metric that may serve as a way to track response to treatment in future clinical studies.

You will be asked questions about your child’s seizures, and/or movement disorder and medications. You will be asked to complete an online survey through a secure data collection website. Then you will be asked to complete an online questionnaire about your child’s behaviors in social, motor, daily living and communication domains.

Dr. Jojo Yang from Stanford Children’s Health, is leading this project. You can fill out the questionnaire by clicking the link below or by contacting Dr. Yang (jojoyang@stanford.edu)

https://is.gd/stanfordepilepsybehaviorstudy