The Bow Foundation is currently fundraising to support two medical research projects.
The first will establish and maintain a patient registry for GNAO1 patients. The registry will allow doctors to collect and share information about patients with GNAO1 gene variances. This critical first step is vital as doctors conduct additional research and gain insights into the growing number of patients who are diagnosed with this rare disease.
The second research project is a study at the University of Virginia led by Dr. Michael McConnell. Genetic mutations in GNAO1 can lead to movement disorders, epilepsy, or a combination of both. These distinct neurological outcomes are likely the result of unique genetic differences in the DNA of each patient. Using a tiny skin sample from each patient, Dr. McConnell will create induced pluripotent stem cells (iPSCs) to better understand each patient’s differences and seek specific drug treatments for each individual.
The McConnell lab and the UVa School of Medicine have extensive expertise in iPSC technology. These iPSCs serve as a long-term resource to researchers that benefit other patients with the same disease. Using iPSCs, researchers can generate a number of human cell types that contain the same DNA and disease as the patient.
After creating iPSCs from GNAO1 patients, the McConnell lab will generate GNAO1-deficient neural circuits that respond to drug treatments like neurons in the patient’s brain. By identifying how each iPSCs responds to various drugs, researchers will begin to understand the differences among each GNAO1 patient’s unique disease. As the collection of GNAO1 patient-derived iPSCs grows, researchers expect this process will benefit additional families.
The long term goal of the Bow Foundation is to continue fundraising and sponsor recurring research grants in support of finding answers and cures for those with GNAO1 disabilities.