At a Glance Gene therapy in ophthalmology is starting to come of age, with the first clinical agent having now reached Phase III trials

But before therapy can even be administered, gene testing has to be performed first. Today, this process is still cumbersome, confusing and time-consuming

time-consuming As ever-more genes (like the Wnt gene family) are uncovered that can cause retinal disease, the need for gene testing is only going to increase

The entire process needs to be streamlined by reducing the costs involved, and enabling patients to access them more easily

My personal interest in gene therapies goes back to my PhD, when I worked on a gene therapy using recombinant adeno-associated virus (AAV) for autosomal dominant retinitis pigmentosa (RP). This was a really exciting time in molecular research as it was around the first time that people were really looking at ways to utilize viruses for therapeutic purposes, rather than trying to figure out how to combat them. After my PhD, I completed my fellowship in Michigan at Associated Retinal Consultants, the same group where Albert Maguire had completed his fellowship. Albert and his wife Jean Bennett received their funding to start RPE65 gene therapy treatment for Leber Congenital Amaurosis (LCA) at this same institution (1). Excitingly, this involved the same viral vector that I had worked on as a graduate student. During my fellowship I was lucky enough to be part of a huge pediatric retina group, and the more I studied the Wnt gene family, the clearer it became that Wnts play a very important role in normal retinal development and maintenance. It struck me that if we could understand how they work and what they do in the retina, we could modulate their function as therapy – and that is my big focus: I study Wnt signaling and look at how this can be manipulated to develop effective gene therapies for Wnt-associated vitreoretinopathies.