WVU graduate student leads research project aimed at utilizing innovative gene therapy techniques to fight against blue cone monochromacy
A research project led by West Virginia University School of Medicine graduate student Brooke Brothers is utilizing innovative gene therapy techniques to explore novel treatment methods for the devastating blinding disease known as blue cone monochromacy (BCM).
Brothers is a fourth-year doctoral student in the Department of Biochemistry and Molecular Medicine Graduate Program. She trains in the lab of Wen Tao Deng, Ph.D., assistant professor for the Departments of Biochemistry and Molecular Medicine and Ophthalmology and Visual Sciences.
Brothers’ research, which is part of her Ph.D. dissertation, focuses on studying and treating a unique genetic mutation that is known to cause BCM.
“BCM is a rare, inherited eye disease that results in severe loss of high-resolution daytime vision and color perception, among other complications that greatly impede a patient’s overall quality of life,” she explained. “Our lab investigated the specific way that a particular mutation causes this disease by recreating it in a laboratory model and implementing gene therapy techniques based on our findings with the goal of treating the root cause of the disease and restoring vision.”
Brothers and her team utilized a technique known as adeno-associated virus (AAV) gene therapy, which uses the harmless virus AAV to deliver genetic materials into cells and treat diseases.
“The cells that make up our bodies have specific instructions in the form of genes, but sometimes we inherit ‘typos’ that prevent cells from working properly,” she said. “AAV gene therapy is a remarkable tool that can go into these diseased cells and provide them with a copy of the correct instructions, ultimately curing the disease. I aim to contribute to the advancement of the AAV gene therapy field, ironing out its current limitations so that it can be more useful, effective and safe for as many patients as possible.”
Brothers and her team observed that when treated with AAV gene therapy at a young age, laboratory models with BCM were able to preserve vision for up to one full year post-treatment, suggesting promising applications for future patients.
“While this is just a small step in the ongoing fight against blinding diseases like BCM, these findings represent an important milestone for us as researchers. We hope that these exciting results will play a crucial role in paving the way for future clinical trials aimed at further exploring the utilization of AAV gene therapies for BCM,” she said.
Brothers served as the primary investigator for this project, which was supported by Dr. Deng, who served as her mentor, and laboratory technician Madyson Ashcraft.
This research was supported by a National Eye Institute grant awarded to Deng, an Unrestricted Challenge Grant from Research to Prevent Blindness awarded to the Department of Ophthalmology and Visual Sciences and several National Institute of General Medical Sciences grants, which support the Visual Sciences Center of Biomedical Research Excellence at WVU.
For her efforts in leading this project, Brothers was recently recognized by the Foundation Fighting Blindness with a travel award, which provided funding for her to present and share her findings with the medical community at the 16th International Symposium on Retinal Degeneration, hosted September 15-20 in Prague, Czech Republic.
“I am so incredibly honored to have had my Ph.D. work recognized by the Foundation Fighting Blindness and the Retinal Degeneration administration to be among the select vision research projects showcased at the biannual meeting. It was a truly invaluable experience to connect with new colleagues from across the world in such a specialized field.
As the project nears its conclusion, Brothers and her team of researchers have further experiments planned to look more closely at the ways gene therapy heals disease-related abnormalities in the eye, and determine why gene therapy methods may not be as viable in older test subjects.
To learn more about research opportunities in the Department of Biochemistry and Molecular Medicine, visit medicine.wvu.edu/biochemistry-and-molecular-medicine/research.
To learn more about vision research at the School of Medicine, visit medicine.hsc.wvu.edu/eye/research