Assistant Professor, Department of Medical Genetics
Alberta Children's Hospital
2888 Shaganappi Trail NW
Calgary, AB T3B 6A8
Identifying novel neurometabolic disorders and using brain magnetic resonance spectroscopy to further characterize known and novel IEM.
Primary Area of Research:
My research interest is mainly focused on further characterizing known Pediatric inborn errors of metabolism (IEM) as well as identifying novel childhood IEMs, specifically using quantitative data from brain magnetic resonance spectroscopy as a non invasive tool. It is projected that there are at least 500 more IEMs to be discovered and children with these disorders are currently undiagnosed. Being able to use magnetic resonance spectroscopy in a quantitative fashion, to help identify these disorders using specific metabolite patterns, will help further characterize the disorders and contribute to the improvement of the clinical outcome of the patients, with an earlier time of diagnosis. The quantitative metabolite data can be analyzed as well to determine if there are specific patterns that can help identify novel IEMs that are currently not described.