As a senior scientist, what are your research goals?
My goals are to identify genetic causes of rare disease; to translate that information into the development of genetic testing and ultimately towards treatment. I am also actively involved in the research that fuels the Newborn Screening program at CHEO.
What was your most impactful discovery?
I’d say discovering the cause of a disorder called episodic ataxia type 2 and also familial hemiplegic migraines. The same gene causes both disorders, and it was the first migraine gene ever identified. I’d say it was the most impactful because it’s been cited more than 1500 times in academic literature.
What does your research look for?
We identify a lot of genes that cause disease, but once we do, the question is how does it cause disease? I’m interested in the biology of what’s happening in the context of the mutation. Sometimes we find mutations in genes that code for unknown traits, so then we need to start really far back and think: what does the normal gene do; what does the mutated gene do; how does the cell differ; what do we see that’s going on; and which cell do you use for experiments?
What research are you currently conducting?
One of our current studies is on Floating-Harbor Syndrome. We found the gene and the mutations, then we noticed that all the mutations cause stop codons – which means they make protein truncate. There is limited information on the gene and its mutations, so we are taking an in-depth at the biology behind this disorder.
What research is underway in the Newborn Screening program?
We answer molecular-level questions and develop new tests to add to the Newborn Screening program. For example, despite the Newborn Screening Infant Hearing Program, some children slip through the cracks because they are born with hearing but lose it weeks after. In the fall, we’re going to screen 10,000 archived blood samples from infants looking for cytomegalovirus and common mutations in four genes that relate to hearing to get an idea of the prevalence of these mutations in the general population. After we get our results, we’ll determine whether it makes sense to add this to the Newborn Screening program.