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Pediatrics

Project Leader

Aneal Khan, MD, MSc, FCCMG, FRCPC
Associate Professor
Department of Medical Genetics and Pediatrics
Alberta Children's Hospital Research Institute,
Cumming School of Medicine
University of Calgary Metabolic Diseases Clinic
Research Description
The primary goal of Dr. Khan's research is to investigate novel methods of treatment of childhood onset genetic disease. As a pediatrician, medical geneticist and metabolic diseases specialist, his clinical research has primarily included subjects with inborn errors of metabolism. Currently, he is involved as a principal investigator in 15 clinical trials from novel therapies to next generation sequencing for mitochondrial disorders, bone imaging in metabolic diseases, metabolic cardiomyopathies and rare disease registries. In 2014, his group at the Alberta Children's Hospital was the first in Canada to use liver cell transplant to treat urea cycle disease. In February 2017, as a principal investigator, for a pan-Canadian group, they were the first in the world to treat Fabry disease with ex vivo gene therapy at Foothills Medical Centre. In March 2018, he was the first in Canada to treat OTC deficiency using an in vivo gene therapy using an AAV8 vector. He is the principal investigator for MITOFIND. He has been nominated for the Alberta Health Services Life Time Achievement Award.

Members

Dr, Samantha Marin, MD
Assistant Professor of Pediatrics, Division of Child Neurology, Winnipeg, Manitoba
 
Research Description
Dr. Samantha Marin completed her medical training and Pediatric Neurology residency at McMaster University (Hamilton, Ontario). Subsequently, she pursued additional training in the form of an NIH-sponsored North American Mitochondrial Disease Consortium (NAMDC) Fellowship located in multiple sites across the U.S.A with expertise in mitochondrial disease (Seattle, WA; San Diego, CA; Houston, TX). In 2015, she started as a clinician and Assistant Professor of Pediatrics, Division of Child Neurology in Winnipeg, Manitoba. Her clinical & research Interests include mitochondrial disease, neuro-genetics, neuro-metabolics, and demyelination.
 
Dustin S. Hittel, PhD
Assistant Professor, Department of Biochemistry and Molecular Biology
Cumming School of Medicine, University of Calgary
 
Research Description
It was my own transformative experience with athletics combined with an education in physiology, biochemistry and genetics that led me to pursue my postdoctoral training in molecular exercise physiology. It was there that I cultivated a genomics tool kit for investigating the molecular aspects of skeletal muscle adaptation to exercise and disease. Since establishing my own laboratory at the University of Calgary, I have used proteomics, genetics, transcriptomics, metabolomics to characterize the molecular underpinnings of metabolic diseases and their management with exercise. This translational approach towards chronic disease research has provided important mechanistic support for the "exercise is medicine" paradigm. I have also directed an international (Canada-USA) genomics study that has identified novel gene-diet interactions as well as gene variants involved in human athletic potential. This project has been a popular training environment for students who are increasingly called upon to interpret complex genetic information related to human health and fitness. In summary, I possess a comprehensive understanding of the genetic and molecular aspects of skeletal muscle health that is aligned with a cell-to-community vision for disseminating knowledge of the beneficial role of exercise over lifespan.
Ingrid Tein MD, FRCP
Associate Professor
Pediatrics, Laboratory Medicine and Pathobiology, University of Toronto
Founder and Director of the Neurometabolic Clinic
Senior Associate Scientist, Genetics and Genomic Biology Program, Research Institute at the Hospital for Sick Children, Toronto
 
Research Description
Dr. Tein directs the Neurometabolic Clinic for the investigation and treatment of children with fatty acid oxidation, mitochondrial, and peroxisomal disorders and cofactor-responsive epilepsies and the ergometric investigation of metabolic myopathies using BOLD-MRI and 31P-MRS spectroscopy. The development of in vitro disease models to understand the underlying pathophysiological mechanisms in order to develop new therapies. She has identified novel clinical and biochemical phenotypes and genotypes, developed new diagnostic screening tests, and developed novel treatment strategies aimed at bypassing or correcting specific metabolic block which have decreased long-term morbidity and mortality in affected children and been implemented internationally. Her research has been supported by the Medical Research Council of Canada, Canadian Institutes of Health Research, Heart and Stroke Foundation, Muscular Dystrophy Association, United Mitochondrial Diseases Foundation and Rare Diseases Foundation.
Tim Shutt, PhD
Assistant Professor, Department of Medical Genetics, Cumming Schoold of Medicine, University of Calgary Member of the Alberta Children's Hospital Research Institute
Research Description
Dr. Shutt has a doctorate in Biochemistry and Molecular Biology from Dalhousie University, with post-doctoral training at Yale University and the University of Ottawa heart institute. His research focuses on understanding basic biological processes required for proper mitochondrial function namely how mitochondria regulate their dynamic shape and distinct genome.
Pranesh Chakraborty, MD, DRCPC, FCCMG
Associate Professor at University of Ottawa, Physician, Division of Metabolics and Director, Newborn Screening Ontario
Research Description
Dr. Pranesh Chakraborty is a physician certified by the Royal College in medical biochemistry and pediatrics, with a subspecialty in biochemical genetics. He joined the Children's Hospital of Eastern Ontario (CHEO) in 2003 as a clinician seeing patients with inborn errors of metabolism (IEM). In 2006, he led the transition of Ontario's newborn screening program to Ottawa, leading to the establishment of Newborn Screening Ontario at CHEO. In 2008, he was instrumental in the founding of the Better Outcomes Registry and Network (BORN Ontario)  at CHEO as a prescribed registry in Ontario. Dr. Chakraborty is a principal investigator for the Canadian Inherited Metabolic Disease Research Network, which recently was awarded a $1.5M CIHR emerging teams grant for rare disease research. Throughout his career, he has been involved in clinicl and translational research related to IEMs.
Mark Tarnopolsky, MD, PhD, FRDP (C)
Clinical and Research Director, Corkins/Lammert Family Neuromuscular and Neurometabolic Clinic, McMaster University
Endowed Chai, McMaster Children's Hospital and Hamilton Health Sciences Foundation, Neuromuscular Disease Professor of Pediatrics and Medicine, McMaster University
Research Description
Dr. Tarnopolsky's research focuses on nutritional, exercise, pharmacological and genetic therapies for neurometabolic (primarily mitochondrial), neuromuscular, and neurogenetic disorders as well as diseases associated with aging. He has authored or coauthored more than 400 scientific articles. He has also lectured widely in the area of neurology (neuromuscular and neurometabolic disorders), aging, and physiology. He has served on several editorial and scientific boards (UMDF, MSSE, Mitochondrion, PLOS ONE, Barth Foundation) and has been on Grant Selection Committees for NSERC (Animal Biology, 2003-2006, Chair, 2006), CIHR Biology of aging Committee (2006), CIHR Movement Committee (2012, 2013, 2015), Chair of the Emerging Team Grant: Mobility in Aging (2007) and a member of the phase I CIHR Foundation grant committee (2017). He is the founder (2015), and current CEO and CSO of Exerkine Corporation.
Dr. Jane Shearer, PhD, BSc, BPHE
Associate Professor
Faculty of Kinesiology, Cumming School of Medicine
Department of Biochemistry and Molecular Biology
University of Calgary, Calgary, Alberta
Research Description
Dr. Jane Shearer, PhD, is an Associate Professor in the Faculty of Kinesiology, Cumming School of Medicine and the Alberta Children's Hospital Research Institute at the University fo Calgary. Her passion is metabolic physiology - how the body creates, uses, and regulates energy. Her laboratory used integrative approaches spanning metabolomics, whole body and tissue-specific substrate utilization, mitochondrial respirometry and protein post-translational modification as well as specific dietary intervention studies in rodents and humans. She has published over 100 peer-reviewed manuscripts and has served as an expert panel member for Health Canada and the National Institutes of Health. Her role in MitoNet will focus on translational research, facilitating knowledge generated in the lab into practice. Specific to mitochondria, her laboratory is interested in the role of mitochondria disease pathogenesis (epilepsy, autism, and inflammatory bowel disease) and the potential of stem cell therapies for mitochondrial disease.
Maja Tarailo-Graovac, PhD
Assistant Professor, University of Calgary
 
Research Description
Dr. Maja's research program uses a multipdisciplinary approach (human and model organism genomics; 'wet' and 'dry' lab approaches) to understand the rare disease genomics. Rare diseases are typically monogenic and individually very rare but collectively affect at least 1 in 50 individuals. The recent advances (less than a decade old) in high throughput sequencing technology (HTPS) have revolutionized diagnosis and discovery of disease genes by enabling the entire genome (whole genome sequencing, WGS) or a protein-coding portion (Whole Exome Sequencing, WES) to be read in a single test. Her group has three main research interests: Diagnostic potential of HTPS, phenotypic variability in rare diseases, and genetic modifiers.
Neal Sondheimer, MD, PhD
Assistant Professor, Department of Pediatrics, University of Toronto
Research Description
Dr. Sondheimer's research focuses on the regulation of mitochondrial gene expression and the impact of mitochondrial mutations in common and rare disease. Strongly pathogenic mitochondrial mutations exist in a state of heteroplasmy, a mixture of normal and mutated genomes. This state provides opportunities for therapy, as the increase of wild type mitochondrial DNA or the suppression of mutated mitochondrial DNA could improve health.
Dr. Sondheimer and his team are investigating mechanisms that could allow shifts in heteroplasmic ratios. He is also interested in the effects of mitochondrial mutations in common disease and phenotypes such as Alzheimer's disease, aging, and preterm birth. Because bioenergetic capacity is crirical to many parts of the body, subtle changes in mitochondrial DNA may have profound effects over time. The mitochondrial genome is the small, densely coding, matrilineally inherited DNA that encodes core subunits of the electron transport chain. Many features of gene regulation are more similar to bacterial and phage systems than they are to gene regulation in the nucleus. Defects in the maintenance of mitochondrial DNA and in the translation of products are known causes of disease. Sondheimer and his team are investigating the dysregulation of mitochondrial transcription as another possible avenue to bioenergetic failure.