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Medical Genetics

Project Leader

Daniela Buhas, MD, FRPC, FCCMG
Associate Director, Biochemical Genetics Laboratory, McGill University
Assistant Professor, Department of Human Genetics, McGill University
Chair, Metabolic Committee, Canadian College of Medical Genetics
Co-Leader, Medical Genetics Pillar, Canadian Mitochondrial Network
Research Description
Appointed at Montreal's Children's Hospital, Dr. Buhas started the Mitochondrial Clinic in 2013, allowing the diagnosis and management of both children and adults with mitochondrial disorders. As a clinician, Dr. Buhas contributed to discovery of two new genes involved in mitochondrial disorders (IARS2 and ATAD3A). Also, for her work of describing the first patient with SUCLA2 deficiency in North America, she was awarded the Young Investigator Award at the 12th International Congress of Human Genetics and the American Society of Human Genetics (Montreal, 2011).
Mitochondrial disorders are frequent disorders, affecting all the organs and systems. However, there are many questions left to be answered: from diagnosis, variability- to management and treatment. As Co-leader of Clinical Medical Genetics Pillar in the Canadian Mitochondrial Network, Dr. Buhas will aim to bring as close to the patient as possible all the discoveries and research that this network will unveil.

Members

Nancy Braverman, MS, MD, FACMG
Associate Professor, Departments of Pediatrics and Human Genetics, McGill University
Research Scientist
Child Health and Human Development Axis, Peroxisome Disease Program, Research Institute of the MUHC
Research Description
Dr. Braverman's research focuses on the development of targeted therapies for patients with peroxisome disorders. Peroxisomes are intimately linked to mitochondria in all body cells, sharing assembly proteins, interchanging lipids and regulating the redox state. It it not unexpected that mitochondrial disorders share tissues specific involvement with peroxisome disorders including retinal degenerations, sensorineural hearing loss and liver dysfunction. Dr. Braverman is currently investigating the contribution of both organelles to these phenotypes in cell, tissue, and mouse model systems, as well as their responses to candidate therapies. As a member of the first Canadian Mitochondrial Network, Dr. Braverman will contribute by improving mitochondrial patient diagnosis and management, as well as identifying and testing candidate therapeutic interventions. 
Michelle Mezei, PhD - ADMC
Clinical Assistant Professor of Neurology, University of British Columbia
Consultant Neurologist, Adult Metabolic Diseases Clinic and Neuromuscular Diseases Unit
Vancouver General Hospital
Research Description
Dr. Mezei is a clinical Assistant Professor at the University of British Columbia. She specializes in Neurology. Her research interests include: neurogenetics, neuromuscular disease, and mitochondrial disorders.
Dr. Anna Lehman
Associate Professor of Medical Genetics, University of British Columbia
Research Description
Dr. Lehman is a clinician scientist in the area of genomic medicine with the British Columbia Women's Health Research Institute. Her primary research programs aim to link genetic variants with rare diseases, and her clinical practice, and secondary area of research, is focused in the area of management of inborn errors of metabolism is adults, with a particular focus on mitochondrial disease. She and her collaborators have uncovered the genetic causes for more than a dozen disorders,