Catherine Brunel

MD, FRCPS, FCCMG

Investigator, BC Children's Hospital
Clinical and Biochemical Geneticist, Division of Biochemical Diseases, BC Children's Hospital

I am a new staff member in Biochemical Diseases and was recruited on Sept 1st 2019. I was previously in Montreal, at CHU Sainte-Justine - Medical Geneticist, Medical Genetics Division, Department of Pediatrics and Biochemical Genetics Diagnostic Laboratory - Clinical Associate Professor, University of Montreal.

I worked as a medical geneticist, doing clinical and diagnostic lab work and research and have a specific expertise in inborn errors of metabolism, and the field of energy metabolism, mitochondrial diseases for which I have developed a multidisciplinary clinic in Montreal where we saw multiple patients with mitochondrial diseases. In parallel to the establishment of mitochondrial DNA sequencing and whole exome sequencing in the Molecular diagnostic laboratory and Genome Centre at CHU Sainte-Justine, I have established the functional diagnostic analysis in the biochemical genetics diagnostic laboratory : Blue Native PAGE and OXPHOS enzymatic activities on muscle fresh and frozen and fibroblasts to help improve the diagnostic yield of these conditions. I was the co-director of the biochemical genetics diagnostic laboratory and the director of the mitochondrial and lysosomal sectors of the lab. I was also part of the provincial multidisciplinary committee for enzyme replacement therapy for Gaucher disease.

Now, at BC Children's Hospital, UBC, in the biochemical diseases division, with my colleagues, we want to explore further the treatment area of the mitochondrial and energy metabolism diseases field to improve patient's care. The diagnostic yield of these diseases has improved but further research needs to be done to develop the treatment and management aspects of these diseases to help reduce the mortality and morbidity and improve their quality of life. We have set up a new metabolic myopathies multidisciplinary clinic at BC Children's. I will continue my collaboration on the RNA seq project and BC Children's is being added as another center for the RNA sequencing ongoing project: RNA sequencing of undiagnosed myopathies with inconclusive WES and mitochondrial DNA sequencing, CHU Sainte-Justine, University of Montreal to continue improving our diagnostic yield.

In parallel, we have recently applied for funding to BCCHR for a new project: we would like to propose a platform for the in vivo assessment of therapies for metabolic myopathies from diet, to exercise therapy to various medications and in the future for new therapeutic agents and for gene therapy by collaborating with Rajavel Elango using various biomarkers and stable isotope related to the energy system capacity and collaborating with the Heart Center and the exercise physiology lab of the Heart's Center. The metabolic myopathies we will focus on consist on the phosphorylation oxidative defects (mitochondrial myopathies), fatty acid oxidation defects and muscle glycolysis defects (mcArdle). We propose, using stable isotope at rest and in a standardized exercise setting to evaluate patient's in vivo response to treatments. The platform will not only enable us to created individualized plans tailored to patient's needs: diet, appropriate exercises programs and the benefits of existing therapeutic agents, but it could help in the evaluation of innovative pharmalogical and gene therapies in the future by enabling us to develop new biomarkers to follow the response to therapies. It will also help us develop specific exercise plans to enable these children to remain physically active, avoiding deconditioning and the risk of a energy crisis. This will complement our Canadian expertise in the field of energy metabolism.