A summer of research
Science student JuliAnn Thai spent four months investigating a rare congenital eye disease.
By Katie Mitran
Undergraduate student JuliAnn Thai spent her summer in a lab working with WCHRI member Jennifer Hocking, an assistant professor in the department of cell biology, investigating a rare congenital eye disease—usually diagnosed in the first decade of life—that causes partial or complete loss of vision.
What program are you in and why did you choose it?
I just entered the fourth year of my Bachelor of Science, with a major in biology and a minor in business. Like many others, I have always had a keen interest in science, especially in the body. I remember frequently going into my older sister’s room to swipe The Amazing Human Body off the bookshelf to read and stare at the photos.
What are your professional goals for the future and how has your WCHRI studentship helped you towards these goals?
I want to pursue a career in health, whether it be as a physician or researcher, and would love to continue studying the eye. After witnessing a loved one suffer from vision loss, I feel like I’ve taken eyesight for granted. WCHRI has provided an opportunity for me to conduct research on the eye and equipped me with the skills needed for research, which will be crucial to helping me jumpstart my own potential vision research projects in the future.
Can you describe your summer studentship research?
KCNV2 retinopathy is a rare but significant congenital disease that causes degeneration and death of photoreceptors, the light-sensing cells of your eyes, which results in partial or complete loss of vision. Our lab uses a KCNV2 retinopathy zebrafish model to study both photoreceptor development and disease progression.
Why are zebrafish a good model for KCNV2 retinopathy?
At first glance, how on earth are zebrafish good models for human disease? Zebrafish share a lot of similarities to us, including organs, genetics and behaviours. They share 70 per cent of their genes with us and about 80 per cent of our genes associated with a disease have a zebrafish counterpart.
Additionally, zebrafish depend very heavily on sight and make amazing eye models because they share a very similar retinal structure to humans. The only difference is that they have an extra cone photoreceptor used for UV light detection. Although humans have one KCNV2 gene and zebrafish have two, we can still perform research to determine the function of each of these genes, especially when characterizing their roles in rods versus cones.
Click here to enlarge infographic.
Are there currently any treatments for KCNV2 retinopathy?
This disease was first identified in 1983 and the gene was not linked to it until 2006. Because it’s only now being widely recognized, there are unfortunately no existing treatments for the disease. Despite this, KCNV2 retinopathy is actually a very good candidate for gene therapy.
What impact do you hope this project makes once completed?
Unlike other cell types in the body, everyone is born with one “set” of retinal cells that cannot regenerate. This makes the retina a popular and promising area of research for gene therapy. In the lab, our first goal was to create and characterize the KCNV2 model of the disease. Once finished we will begin looking at cellular mechanisms and causes of photoreceptor degeneration. The zebrafish KCNV2 model will serve as a stepping stone to exploring a variety of treatments to preserve retinal cells.
Did you have any interesting results from your research project?
Yes! A majority of my project was assessing retinal function of zebrafish using electroretinogram (ERG) testing, which detects function of the retina. In May and June, I learned to assess retina responses to light in 16-month-old zebrafish and compared both wildtype (regular) zebrafish and mutants in the KCNV2 genes. Mutant zebrafish had a significantly delayed and weaker response to light when compared to the wildtype fish, which was what I anticipated, as I expected the disease to have progressed quite a bit in the mutant adult zebrafish. Our next step is to look at the morphology of these photoreceptors and compare between these two genotypes where we will hopefully be able to match function to shape and size.
What do you consider to be your greatest success during your summer studentship?
I have to confess, I was initially quite intimidated by the concept of research. Despite having previous exposure in high school, as a first-year, I felt that I lacked the knowledge in how to conduct experiments and my fear of failure and messing up also led to hesitation. The summer studentship was not only an opportunity to conduct research but to learn more about myself and become more independent. My biggest success this summer was achieving confidence in carrying out protocols and looking after zebrafish myself—I was able to learn how to independently tackle a project and carry it to completion.
What advice do you have for undergraduate students considering getting involved in research?
It’s okay to be intimidated initially; however, make sure to get involved and be curious about everything that you do. Although the techniques sound like a lot, it will all become second nature in time. If I can compare the role of a researcher to another profession, I would choose an explorer. There will always be uncharted territories that no one can advise you on and you’ll slip and get lost along the way. However, you’ll be going where no one has ever gone before while accumulating mountains of wisdom. Before you know it, you’ll have published your own paper! Research can be very rewarding—it’s all about the journey but having a good end goal helps too!
JuliAnn Thai was supervised by Jennifer Hocking. Her summer studentship project was funded by the Stollery Children’s Hospital Foundation through WCHRI.
Katie Mitran is a member of WCHRI’s Trainee Advisory Committee.