When I learned that George carries mutations in USH2A, the gene responsible for Usher Syndrome Type II, I was not paralyzed by fear; I was determined to fight it. I wanted to understand how a single change in DNA could take away both hearing and vision, and how science could potentially rewrite its outcome. That determination became the foundation of everything I pursued since, from designing CRISPR strategies and modeling exon skipping to collaborating across countries towards gene therapy solutions. Each project strengthened my resolve to turn molecular discovery into treatments for disorders.  

When George’s diagnosis was confirmed, I immersed myself in literature to understand its molecular underpinnings. I learned that there was limited knowledge about the condition, so I sought research opportunities to fill that void and allow me to study hearing and vision loss firsthand. During my freshman year, I joined a lab in the University of Florida (UF) College of Medicine, where I explored how mitochondrial health influences auditory function and how sex differences shape vulnerability to hearing loss. This was the first time I realized how studying small cellular components could reveal insights on preserving the senses connecting us to the world.

Building on this newfound appreciation, my curiosity turned toward using gene editing to address hereditary disorders directly. So, I proposed a project to the Jain Lab in the University of Florida College of Engineering, where I worked under the mentorship of Biomedical Sciences Ph.D. Candidate Noah Rakestraw to develop a CRISPR-mediated gene-editing approach targeting my brother’s mutation. This was my first direct exposure to gene therapy and solidified my goal of translating molecular discoveries into treatments that could change patients’ lives. For this project, I initiated collaborations with leading international experts in gene therapies for Usher Syndrome, including Dr. Bence György, Head of Clinical Translation at the Institute of Molecular and Clinical Ophthalmology Basel in Switzerland. In parallel, I collaborated with Dr. van Wijk, Head of the Usher Syndrome and Hereditary Hearing Loss research group at the Radboud University Medical Center in the Netherlands, to evaluate exon-skipping strategies to restore proper USH2A protein folding/function in presence of specific deleterious mutations. Through protein modeling, we identified strategies that could produce modified but functional proteins capable of halting or reversing progressive vision loss in presence of specific mutations/deletions in the USH2A gene.

This journey began with a diagnosis that changed everything. Now, it has evolved into a mission to share knowledge and advance research through a new monthly blog. This platform will allow me to share my research journey, bridging my personal experience as a health advocate for my brother, who has USH2, and my professional experience as a researcher working to develop a therapy.

The monthly science blog will be named Skipping to Sight because my current research projects are focused on exon skipping, with the goal of bringing novel therapies to the clinic and stopping the progressive loss of vision that is associated with USH. In this blog, I will simplify and break the science down, explain how therapies go from the bench to the bedside, and outline some of my day-to-day experiments (including both successes and frustrating hurdles to overcome).

Future topics will include explaining the science behind emerging therapies for Usher syndrome, detailing what translational research looks like, discussing the techniques used in the lab to develop therapies, exploring the use of specific research models in studying USH, and outlining the process of moving a potential therapy from the lab to clinical trials. If there are topics readers are particularly interested in or would like explained in more detail, please feel free to contact the Usher Syndrome Society. Your input is invaluable, and I look forward to engaging with the community through this new blog.