Apr 20, 2015

Can Valproic Acid (VPA) Be Used To Treat Retinitis Pigmentosa? The Answer Is In The Gene

Although winning a research award can help motivate scientists, Ruanne Lai doesn’t need extra motivation. For Ruanne, science is a “way of life” rather than simply a job.

Ruanne’s recent win, however, is still cause for celebration. Her research about the role of Valproic acid (VPA) as a proposed treatment for retinitis pigmentosa (RP) earned top honour at the 2014 International Symposium on Retinal Degeneration, which took place in Pacific Grove, California.

At present, there are two phase II clinical trials that are evaluating if VPA can treat RP. Even though these trials are underway, we still don’t understand what VPA is doing. Ruanne’s recent findings highlight why it is critically important to learn more about how VPA works. Surprisingly, her results show that although VPA has the ability to slow down the progression of RP, it also has the ability to speed it up. Critically, her research also shows that the underlying genetics of the disease can determine whether VPA will be helpful or harmful. This is likely to be the case for other RP treatments as well, so it will be important for researchers to consider genetics in clinical trials, and for people with RP to be genetically tested.

These results are especially meaningful to Ruanne because in addition to studying RP in the lab, she lives with the disease.

Ruanne first suspected that she might have RP during the second year of her PhD in Germany: “I realized that my eyesight was deteriorating and because I had access to the scientific literature and knew that my mother has RP, I suspected that I might have RP too… I then asked the ophthalmologist to test me, and the diagnosis was confirmed. From that point onwards, I became more interested in RP research than my own PhD project.” Today, Ruanne sees research as “her passion and her way of life.”

Fortunately, Ruanne discovered Dr. Orson Moritz’s FBC-funded RP research at the University of British Columbia. She describes how “It was exhilarating to talk with Orson, who is knowledgeable and passionate about RP research.” Indeed, Dr. Moritz is an important member of our community, who also volunteers on our Scientific Advisory Board. Before she began her research career, Ruanne majored in Dance and Kinesiology. She describes how her deep commitment to research is shaped by her belief that “a person who is passionate about their work, whether it be dance or science, never stops” and her ability to “understand the physical, mental, and emotional barriers of RP.”

To figure out the basic science of VPA, Ruanne has been using tadpoles in her studies. In some animal models of RP, the rate of retinal degeneration is influenced by exposure to light; animals that are raised in the dark experience less degeneration than light-reared animals. Ruanne’s study builds on this knowledge and involves raising tadpoles with RP mutations in light or darkness while exposing them to various concentrations of VPA. She discovered that treatment with VPA and two other related drugs prevented the harmful effects of light in some RP models, but made the effects of light worse in others. These unpublished results highlight the importance of receiving a genetic diagnosis and using that diagnosis to make informed decisions about treatment options.