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Statistical Genetics and Diagnostics

Project Leader

Dr. Stacey Hume, PhD, FCCMG, ErCLG
Associate Professor
Department of Medical Genetics, University of Alberta
Research Description
Dr. Hume's lab has been performing full mitochondrial genome testing for patients since 2007. As mitochondrial genome testing can be complex, some of her research interests involve simplifying the process to permit testing that is widely adopted by diagnostic laboratories. She is also interested in developing cost-effective algorithms that reduce the mitochondrial patient's diagnostic odyssey and ensures public health care sustainability. Her professional interests include serving with her college (Canadian College of Medical Geneticists), and improving diagnostic lab quality through the European Molecular Quality Network.

Members

Iveta Sosova, PhD
Biochemical Geneticist
 
Assistant Professor, Dept. of Laboratory Medicine and Pathology, University of Alberta
Joint Laboratory Head, Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Edmonton, Alberta
 
Research Description
Dr. Sosova received a PhD in Biochemical Sciences from the National Autonomous National University of Mexico (UNAM) in Mexico City. During her postdoctoral research at Queen's University in Kingston, ON and University of Alberta in Edmonto, AB, she studied the cytochorme c oxidase assembly process and also worked on development of a microfluidic method for molecular analysis of mitochondrial DNA.
 
Her primary research interest focuses on the understanding of the functional role of the mitochondrial oxidative phosphorylation (OXPHOS) supercomplexes. As a fellow of the Canadian College of Medical Geneticists at the University of Calgary, she worked on the development of a diagnostic tool for the interrogation of novel forms of infantile mitochondrial disease. She developed a hybrid method combining both blye native- and clear native polyacrylamide gel electrophoresis techniques, termed BCN-PAGE, to assess the structural organization, assembly and stability of the OXPHOS (super/supra) complexes in skin fibroblasts. Defects in proper assembly of these supercomplexes have been associated with many mitochondrial disorders.
Paulo Nuin, PhD, BS, MSc
Biological Sciences
Adjunct Assistant Professor, University of Alberta
Research Description
Dr. Nuin has more than 15 years of Bioinformatics and Computational Biology research and has worked across Canada in a multitude of topics in the field. Grom genomics and proteomics to metabolomics, his work is based on creating and developing tools and analytical methods to improve the work translation from the bench to the computer. He has been involved in projects that span from cancer biology to microbiology, using techniques such as microarrays and nect-generation sequencing. More recently, Dr. Nuin is devoting his time to improve diagnostic protocols for Genetic Laboratory Services North. Dr. Nuin has a specific interest in mitochondrial genome analysis, for both research and clinical diagnostics, and has worked the past four years on applications geared to improve workflow and analysis of this genome.
John Waye, PhD, DABMGG, FACMG
Discipline Director, Laboratory Genetics, Hamilton Regional Laboratory Medicine Program (HRLMP)
Head of Service, Molecular Diagnostic Genetics, HRLMP
Professor, Department of Pathology & Molecular Medicine, McMaster University
Research Description
Dr. Waye is the Discipline Director for Laboratory Genetics and Head of Service for Molecular Diagnostic Genetics at the Hamilton Regional Laboratory Medicine Program (HRLMP). He is also a Professor in the Department of Pathology & Molecular Medicine at McMaster University. Dr. Waye received a PhD in Medical Biophysics from the University of Toronto and is a board certified in the specialty of Clinical Molecular Genetics and Genomics from the American Board of Medican Genetics and Genomics. He has published over 180 research and clinical articles with an h-index factor of 41 and over 7800 citations. Dr. Waye's laboratory provides clinical molecular diagnostic testing for mitochondrial disorders using next-generation sequencing panels for both the mitochondrial genome and selected nuclear genes.