From life-saving gene therapies to new ways of understanding how we move as we age, two projects led by Queen’s Health Sciences researchers are pushing the boundaries of what is possible in neurological and mobility science, thanks to a $7M contribution from The Hilary and Galen Weston Foundation.
Dr. Walia’s research explores the potential of gene therapy to treat infantile forms of Tay-Sachs and Sandhoff disease, a rare neurological disorder that almost always causes premature fatality in children.
"I feel a lot of gratitude—and excitement that there is a foundation that can see the potential here to change lives," says Dr. Jagdeep Walia.
Dr. Stephen Scott, in collaboration with Drs. Vince DePaul and Kevin Deluzio, is embarking on a multi-pronged project that will revolutionize how mobility in seniors is evaluated. The project's goal is to move toward earlier diagnosis and treatment of disorders that manifest through impairments in brain function and mobility.
While the two projects cover the far ends of the age spectrum, both have a common goal: saving and improving lives.
Investing in the potential of gene therapy
Dr. Walia’s work with intrathecal HuB2A gene therapy dates back to his early career, and his interest in gene therapy even before that.
"Reading Altered Fates by Jeff Lyon and Peter Gorner after medical school changed my own fate," he says. "I came to Canada to be trained in gene therapy in 2003 and have focused on it and brain conditions since."
The book is about gene therapy as a ray of hope for disorders with no known cure, and Dr. Walia is pursuing just that with his research.
"Children with the infantile form of Tay-Sachs and Sandhoff disease usually die by four years of age," he says. "These incurable illnesses can be devastating for families, and this research will represent a significant step forward in finding a treatment."
The study will extend Dr. Walia's prior research through a clinical trial to determine definitively whether the therapy is effective in children, which may also lead to benefits for adults with the same condition, and could even extend to adults with other neurodegenerative diseases.
Supporting healthy aging in place
While Dr. Walia's research targets a condition that can be fatal to children, Dr. Scott is looking at ways to revolutionize how conditions are identified and monitored at the other end of the age spectrum. His project will span three areas: using his existing interactive Kinarm robotic technology and a new technology to capture whole-body motion, he will monitor a large cohort of elderly participants to quantify subtle, but measurable changes in arm motor function, cognition and whole-body mobility that might indicate health issues. He will then evaluate the effectiveness of direct interventions that encourage healthy aging in place.
Dr. Scott has used Kinarm robotic technologies for many years to study cognitive impairments in various neurological diseases and injuries. A key addition in the present research project is markerless motion capture; a leap forward in how whole-body motion is monitored and analyzed. It uses multiple video cameras and AI-enabled analyses to track body motion.
“Previous motion capture systems required you to put little markers on landmarks, segments of the body," Scott explains. "It never made it that far into clinical research, because it takes too long to put the markers on a person, and every research centre does it slightly differently. The new markerless motion capture system constructs what's effectively a skeleton of the body, with all your joints and body segments."
It's a technology that will also have tremendous implications for both sports and filmmaking. In Dr. Scott's project, however, it unlocks to related projects: examining a large cohort of healthy older participants over time to look for early markers of medical conditions, and strategies to help healthy aging in place.
"This funding will allow us to follow 400 individuals over two years," he explains. "We can track them to see how their health is progressing, and if a health issue develops, we can look back to see if there were signals we could have caught. It's about developing analytical techniques that can identify signature behaviour, and changes that might help us identify a condition early enough to cure it, if it is curable, or catch it early enough to maintain good health for a longer time period."
Research on the road
The final aspect of the project brings the Kinarm robotic technology on the road, to assess individuals where they live, gauging the effectiveness of various health-based interventions in communities.
"Rather than getting everyone into the research lab we can now take the lab to them, studying people in smaller rural communities, or Indigenous communities, doing follow-up for clinical studies that would previously have been too difficult.” Dr. Scott says.
"It's a very large, broad set of three intertwined projects," Dr. Scott says, "and it's fantastic that The Hilary and Galen Weston Foundation saw the potential and value in nurturing this. It moves us from the fundamental research of how a technology accomplishes something, into using those sophisticated tools in the community in ways that have the potential to improve health policy."
As Dr. Walia attests, funding from sources like The Hilary and Galen Weston Foundation can be instrumental in moving medical science forward.
"Funding is very scarce, and having a foundation like this behind you means you are trusted to take your research further," he says. "Such expensive and long-term research can't be funded by government agencies alone. This is why we need organizations like The Hilary and Galen Weston Foundation to come forward and say 'we care about the science, and this looks promising—let us help you.'"