Research

Supported Research

University of Massachusetts Research Project

In June of 2021, the Bow Foundation funded $183,000 to explore gene therapy treatments.  Dr. Miguel Esteves at the University of Massachusetts Horae Gene Therapy Center and Dr. Richard Neubig’s research team at Michigan State University are partnering on this effort. Together, they will lay the groundwork for cutting-edge GNAO1 gene therapy – which could unlock a treatment option for GNAO1 related neurodevelopmental disorders. Dr. Esteves and Dr. Neubig will work to clarify the diverse impacts of the disease before starting to design and test gene replacement therapies using mouse models. The proposed treatment could either supplement or silence and replace the faulty GNAO1 genes that trigger symptoms in patients.

To read more about these latest funding announcements click here. Including these latest announcements in 2021, the Bow Foundation has fundraised and supported more than $750,000 in GNAO1 research since launching in 2017.

University of Virginia Research Project

In June of 2021, the Bow Foundation funded $50,000 to advance the medical community’s understanding of GNAO1.  Dr. Erika Axeen at the University of Virginia will explore and expand the medical community’s current understanding of GNAO1 related neurodevelopmental disorders by analyzing patient data and identifying trends from the ongoing GNAO1 International Patient Registry, linking this research effort with the ongoing Natural History study. The patient registry was established by the Bow Foundation as a way for patients and families to share medical history information to help scientists gain a more accurate understanding of the impacts of the genetic disorder across the patient population.

University of Geneva, Switzerland Research Project

In June of 2021, the Bow Foundation funded $50,000 to shine new light on how GNAO1 mutations affect individual cells.  Dr. Jana Valnohova, a post-doctoral researcher in the Katanaev lab at the University of Geneva, Switzerland, will work to shine new light on how different GNAO1 mutations affect the individual action of cells. This biological research might help explain why GNAO1 impacts certain patients in such different ways, and provide a better understanding of how various treatment options may help.

University of California, San Francisco Research Project

In January of 2020, the Bow Foundation funded a $100,000 research project at the University of California, San Francisco to launch an investigation into GNAO1 in zebrafish.  Led by Dr. Scott C. Baraban the research team will develop GNAO1 loss-of-function zebrafish to launch a first-of-its-kind drug discovery program. 

Click here to read more about this grant.

Update: The results of a portion of this project where published in- Phenotypic analysis of catastrophic childhood epilepsy genes | Communications Biology (nature.com)

The Scripps Research Institute

In January of 2020, the Bow Foundation funded a $50,000 post-doctoral fellowship at The Scripps Institute.  Dr. Brian Muntean’s post-doctoral fellowship project will focus on expanding the understanding of the mechanism by which GNAO1 influences activity in brain cells. By examining the effects of GNAO1 on brain activity, Dr. Muntean’s studies will help shine a light on how GNAO1 mutations cause such varied patient impacts.

Click here to read more about the fellowship.

Update: The results of this project where published in – Gαo is a major determinant of cAMP signaling in the pathophysiology of movement disorders: Cell Reports

Washington University Natural History Study

In March of 2019, the Bow Foundation funded a $65,000 research project at Washington University to help with the costs of the three-day research clinic at St. Louis Children’s Hospital to begin a Natural History study of GNAO1.

Click here to read more about the 2019 clinic.

Update: A virtual clinic was held in 2020 due to the covid-19 pandemic.  As of June 2021 the Bow Foundation has granted an additional $63,000 to this project to continue their efforts in 2021 and 2022. 

University of Virginia Research Project

In 2018, the Bow Foundation launched the GNAO1 International Registry to accelerate medical research and promote meaningful health outcomes for patients with GNAO1-related neurodevelopmental disorders.  This project is being led by Dr. Erika Axeen at the University of Virginia.

Update: The results of this project where published in – Results of the First GNAO1-Related Neurodevelopmental Disorders Caregiver Survey – ScienceDirect

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.

Update: The results of this project and related work where publish in – A mechanistic review on GNAO1-associated movement disorder – PubMed (nih.gov)

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.

Update: Dr. Michael McConnell has moved to the Lieber Institute for Brain Development (LIBD) and continues his work on GNAO1.

Stanford Research Project

GNAO1 families are 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.

https://is.gd/stanfordepilepsybehaviorstudy

Update: A poster presented at AES in 2020 shared some of the data findings of this work. The poster can be viewed below.