Going blind: Scientist seeks to cure to own disease

As a scientist, what if the research you were doing could potentially help cure the very disease you were suffering from?

Stuart Matan Lithwick, 36, is that scientist aiming for a cure. A PhD student in the lab of Dr. Valerie Wallace, Donald K. Johnson Chair in Vision Research, located in the new Krembil Discovery Tower (KDT) at Toronto Western Hospital, Lithwick knows firsthand the urgency of uncovering these cures. 

He has retinitis pigmentosa (RP) a degenerative eye disease that causes severe vision impairment and often leads to blindness. Every day, Stuart’s vision includes flashes of light, indication that the cells of his retina are dying right before his eyes.

 

It was while he was finishing his Master’s degree in 2004 that Lithwick accidentally found out he has a genetic disorder. A chance exam given by an optometrist led to an initial diagnosis of RP, later confirmed by an ophthalmologist. 

“I was in complete shock,” he said, “I went in for an information interview, and came out diagnosed with a blindness disorder.” Lithwick has no family history of this disorder.

 

Coping with vision loss

Lithwick then left the research world, and tried several occupations, including medical writer, informatics analyst, and eventually settled on teaching science to high school students for the next three years.

As he adapted to a new life outside of research and learned to live with deteriorating sight, Lithwick found great support and resources through the Foundation Fighting Blindness (FFB), and became an active volunteer with the organization. It was at VisionQuest, the FFB’s annual conference for researchers and patients, that another chance encounter changed the course of Lithwick’s life yet again.

It was at this meeting that Lithwick met Wallace.

“After being diagnosed with RP, I pursued genetic testing for all the known mutations of the genes that are related to RP. But the doctors couldn’t tell me the type of mutation that caused my RP,” he said. “So I just accepted that I was untreatable. But talking to Wallace about the details of her research really made me re-evaluate that assumption.” 

Lithwick was so inspired to hear about her ground-breaking research that he always kept it in the back of his mind.

Returning to ​research

After two more years of teaching, Lithwick felt it was time to return to the research world and to the work that most inspired and motivated him. He hadn’t forgotten the original spark that had got him thinking about research again, and sent Wallace an e-mail asking for help to return to academia. That was when Wallace asked if Lithwick would like to work in her lab.

 

In July 2013, Lithwick, who has about 60 per cent of his vision left, set foot in a lab after an absence of eight years. He is passionate about the research Wallace and her team are involved with – rebuilding the damaged retina with new cone cells, cells in the eye which are specialized to receive light.

Researchers have long been puzzled about how to help these injected cells survive and embed themselves into a damaged retina. 

Her goal is to develop more efficient transplantation methods that help these cells integrate with existing tissue to restore lost vision.

 

Wallace’s lab is one of a small handful of labs in the world that study this process rigorously.  Ultimately, understanding the perilous journey these specialized cells take to arrive at and then embed in the retina is the very research that could lead to a treatment for Stuart’s ailment.

 

“Now I have a chance to make a difference in people’s lives,” said Lithwick, “If we can learn how to successfully transplant these cells, this could be used to treat many people who are facing blindness, including me.” 

Lithwick does emphasize that any relevance to patient treatments are years away.

 

KDT and the quest for a cure

Lithwick is happy to be working at the KDT, with its emphasis on collaboration, and fostering interactions among scientists with different research interests. All the labs in the KDT are focused on the same goal: research in neural and visual sciences as well as musculoskeletal diseases to not only treat, but eventually cure, these ailments.

With 105,000 square feet of research space, the Krembil Discovery Tower provides the latest in research space design, and an environment where collaboration and innovation will help the scientists of the Toronto Western Research Institute make a significant impact on many diseases that are debilitating to our aging population.      

Although Lithwick still has enough sight to set-up and conduct experiments, the facilities at the KDT have helped him with other work challenges he faces as a researcher with tunnel vision and an inability to see in low light conditions. 

He and his KDT colleagues use a fluorescent imaging system to detect levels of proteins. The availability of this machine means that Lithwick can measure proteins in daylight unlike the more common technique that uses photographic film, which must be carried out in complete darkness.

 

“The Krembil Discovery Tower is the most congenial and collaborative research environment I have ever worked in,” he said. “It’s set up for everyone to talk to each other. The lab is the place where we put our ideas to the test. But the only way to develop these great ideas is through constant communication between researchers.”

 

Lithwick has no idea how quickly his disease will progress and recognizes that he is in a race against time to solve the mystery of how to replenish the cells in his eyes that have essentially died. But this realization doesn’t discourage him.

“Regardless of what happens to me and my eyesight, I have the opportunity to make a huge difference in people’s lives. That’s why I became a scientist in the first place, because I believe in what we can accomplish with research.”​