Sarah Bowdin, BM, MSc, MRCPCH (UK)
Hospital Affiliation: SickKids Hospital
Dr. Sarah Bowdin graduated from the Medical School at University of Southampton, England. Sarah trained in general paediatrics and neonatology in London, England and Edinburgh, Scotland before being accepted onto a training program for Clinical Genetics in 2002 at West Midlands Regional Genetics Service, England. During the 4 year clinical training program, she also undertook a Masters degree in Prenatal Genetics and Fetal Medicine at University College London. Sarah joined the Sickkids community in July 2008 as a Staff Geneticist. Her clinical and research interests are in the fields of cardiac genetics, dysmorphology and genomic imprinting. She is an Assistant Professor in the Department of Pediatrics at University of Toronto, Co-Director of the recently established Genome Clinic in the Division of Clinical and Metabolic Genetics, Member, Medical Board of Directors for the Loeys-Dietz Foundation (Canada and US) and sits on various divisional and hospital based committees.
Dr. Kim Boycott
Kym Boycott is a Neurogeneticist at the Children’s Hospital of Eastern Ontario (CHEO) and Investigator at the CHEO Research Institute. She is an Associate Professor and holds a Faculty of Medicine Research Chair in Neurogenetics at the University of Ottawa. She completed her PhD, MD and FRCPC training in Medical Genetics at the University of Calgary. She is the recipient of the Canadian Institutes of Health Research Clinical Investigatorship Award from the Institute of Genetics, the SickKids Foundation Young Investigator Award and the Basil O’Connor March of Dimes Young Investigator Award. Her current research is focused on the identification of genes and molecular pathways for rare disorders and she is the Lead Investigator of the Genome Canada, CIHR funded ‘Finding of Rare Disease Genes in Canada’ (FORGE Canada) and ‘Enhanced CARE for RARE Genetic Diseases in Canada’ initiatives.
Michael Brudno is the Scientific Director of the Centre for Computational Medicine at the Hospital for Sick Children and an Associate Professor in the Department of Computer Science at the University of Toronto. After receiving a BA in Computer Science and History from UC Berkeley, he got his PhD from the Computer Science Department of Stanford University, working on algorithms for whole genome comparisons. He completed a postdoctoral fellowship at UC Berkeley and was a Visiting Scientist at MIT before starting his position at Toronto. Michael Brudno’s main research interest is the development of computational methods for the analysis of genomic and phenotypic datasets, especially identification of harmful variants in human genomes, analysis of high throughput sequencing data, including discovery of structural and copy-number polymorphisms, identification of functional variants, and visualization of genomic data. He has also worked on comparative genomics, molecular evolution, and cloud computing. He is the recipient of the Ontario Early Researcher Award and the Sloan Fellowship, as well as a Canada Research Chair.
Dennis E. Bulman, Ph.D., FCCMG, FACMG
Dennis Bulman is a Senior Scientist at Newborn Screening Ontario and the Children’s Hospital of Eastern Ontario Research Institute. He is Associate Professor of Pediatrics at the University of Ottawa. Dr. Bulman received his B.Sc. (Genetics) and M.Sc. in Microbiology and Immunology from the University of Western Ontario and a Ph.D. in Molecular and Medical Genetics from the University of Toronto under the supervision of Drs. Peter Ray and Ron Worton. He is certified by the Canadian College of Medical Genetics and the American College of Medical Genetics in Clinical Molecular Genetics. He is also a Diplomat of the American Board of Medical Genetics. In 2012, he joined Newborn Screening Ontario and the Children’s Hospital of Eastern Ontario Research Institute. Dr. Bulman’s research interests involve the identification of genes for rare genetic disorders, the translation of these discoveries to the clinic and the implementation of new molecular testing paradigms to Newborn screening.
Dr. David Dyment
David Dyment is a geneticist at the Children’s Hospital of Eastern Ontario Research Institute. He completed his masters in Genetics from UBC and then his doctorate at the University of Oxford. His training in Medicine was completed at the University of Calgary. Current interests include the diagnosis of rare disorders with next generation sequencing and the translation of this new technology to patient care.
Dr. Harry C. Dietz, III
Dr. Dietz is Victor A. McKusick Professor of Pediatrics, Medicine, and Molecular Biology & Genetics in the Institute of Genetic Medicine at the Johns Hopkins University School of Medicine. He is also an Investigator in the Howard Hughes Medical Institute. His undergraduate training in biomedical engineering was performed at Duke University and his MD degree was received from the Health Sciences University of Syracuse. Clinical and research training in pediatrics, pediatric cardiology, and genetics occurred at Johns Hopkins University School of Medicine. Dr. Dietz heads a multidisciplinary clinic for the diagnosis and management of individuals with heritable forms of cardiovascular disease, with a special emphasis on Marfan syndrome and related connective tissue disorders. He is Director of the William S. Smilow Center for Marfan Research, a group of dedicated molecular biologists focused on improvement of the lives of individuals with Marfan syndrome and related disorders through the development of novel diagnostic and treatment strategies. Dr. Dietz has received multiple prestigious awards including the Curt Stern Award from the American Society of Human Genetics and the Taubman Prize for excellence in translational medical science. He is an inductee of the American Society for Clinical Investigation, American Association for the Advancement of Science, Institute of Medicine, Association of American Physicians, and the National Academy of Sciences.
Randi Hagerman MD
Professor Randi Hagerman is a Developmental and Behavioral Pediatrician and the Medical Director of the MIND Institute at UC Davis. She is internationally recognized as both a clinician and researcher in the fragile X field and she is the director of the Fragile X Research and Treatment Center at the MIND Institute and holds an Endowed Chair in Fragile X Research at UC Davis. Professor Hagerman received her M.D. from Stanford University where she also carried out her Pediatric residency. She completed a Fellowship in Learning Disabilities and Ambulatory Pediatrics at UC San Diego and, subsequently, spent the next 20 years from 1980 to 2000 at the University of Colorado where she headed Developmental and Behavioral Pediatrics. She co-founded the National Fragile X Foundation in 1984 in Colorado and developed a world-renowned fragile X research and treatment center. In 2000, Professor Hagerman moved to UC Davis to be the Medical Director of the MIND Institute. Dr. Randi Hagerman and Dr. Paul Hagerman and their team discovered the Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) which is a neurological disorder that affects older carriers of fragile X.
Dr. Hagerman’s research involves genotype-phenotype correlations in fragile X and the association of fragile X and autism. Her greatest interest is in targeted treatments for fragile X syndrome, autism and premutation medical problems including FXTAS. Professor Randi Hagerman has written over 300 peer-reviewed articles and numerous book chapters on neurodevelopmental disorders. She has written several books on fragile X including a 3rd Edition of Fragile X Syndrome: Diagnosis, Treatment, and Research which was published in 2002 by Johns Hopkins University Press. She is editing a new book now regarding targeted treatments for neurodevelopmental disorders to be published by Oxford University Press.
Dr. Robert M. Hamilton, MD, FRCP(C), MHSc
Dr. Hamilton was born in Halifax, Nova Scotia where he did his undergraduate degree, medical degree, pediatric training and initial training in children’s heart disorders. He then underwent fellowships to complete his cardiology training, spending a year each in Alberta Children’s Hospital, The Hospital for Sick Children, Toronto and Texas Children’s Hospital, Houston. While training in Toronto in 1987, Dr. Robert Freedom requested that he join the staff and complete his training in children’s heart rhythm disorders. This was completed in 1988-89 under Dr. Arthur (Tim) Garson Jr., following which he joined the Sick Kid’s staff.
Dr. Hamilton became Section Head of the Heart Station/Electrophysiology Service in 1998 and went on to recruit 3 additional partners and a core group of trained technicians who provide expert invasive and non-invasive care of children’s arrhythmias and prevention of sudden death. He acted as acting division chief from 2000 to 2001 and was promoted to full professor in 2004.
Dr. Hamilton is cross-appointed to the Hospital for Sick Children Research Institute as an Associate Scientist, and runs research programs in the basic science of congenital heart block (CIHR funded) and the diagnosis and mechanisms of arrhythmogenic right ventricular cardiomyopathy (Caitlyn Morris Memorial Fund of the Hospital for Sick Children Foundation).
Dr. Hamilton was the founding scientific advisor to the SADS (Sudden Arrhythmia Death Syndromes) Canada patient support group and organizes or contributes to annual patient support events. He also has completed a Masters in Health Policy and Management from the University of Toronto, and is a member of the Expert Advisory Committee on the Vigilance of Health Products (Health Canada). He is completing a term as the Medical director of the Sickkids Telemedicine program.
Dr. & Mrs. Hamilton keep busy with children at home, and save a few hours aside to fix up and sail their aging catamaran on Lake Ontario.
Taila Hartley is a research genetic counsellor at the Children’s Hospital of Eastern Ontario (CHEO) Research Institute. She is the clinical
coordinator of CARE for RARE, a collaborative pan-Canadian research project configured to improve the diagnosis and treatment of rare
diseases. She completed her Master’s degree in Biochemistry at the University of Toronto and her Master’s degree in Genetic Counselling
at the University of British Columbia. She is an active member of both the Canadian Association of Genetic Counselors and the National
Society of Genetic Counselors.
Dr. Stacey Hume, PhD, FCCMG
Dr. Stacey Hume completed her undergraduate degree (Microbiology) from the University of Alberta in 1994. She completed her PhD in Oncology at the University of Alberta in 2002. In 2003 she began her CCMG training in Calgary and obtained her fellowship in Molecular Genetics in 2006.
Dr. Hume has been with the Edmonton Molecular Diagnostic Lab since 2005 - initially as the assistant director and since 2008 as the lab head. She is also an assistant professor within the department of Medical Genetics at the University of Alberta. Her research interests include evaluating methods and software for variant detection as well as improving lab quality.
Dr. Micheil Innes MD FRCPC FCCMG
Micheil Innes obtained his BSc in Biology (Human Genetics) from McGill University, his MD from the University of Alberta and FRCPC (Medical Genetics) at the University of Manitoba. Since 2000 he has been a member of the Department of Medical Genetics at the University of Calgary where he is currently an Associate Professor. He is the Chair of the Specialty Committee in Medical Genetics of the Royal College of Physicians and Surgeons of Canada and the National Coordinator of Orphanet Canada. He is a co-investigator of the Genome Canada funded "Enhanced Care for Rare Genetic Diseases in Canada" grant where he is leading initiatives related to physician education and patient advocacy as it relates to genomics and rare diseases. His research interests include the clinical delineation and molecular characterization of malformation syndrome and the genetics of Mendelian diseases in Canadian founder populations.
Nada Jabado, MD, PhD
Associate Professor of Pediatrics, McGill University
Pediatric Hematologist-oncologist, Montreal Children’s Hospital
Director, Brain Tumour Research Laboratory, Research Institute of the McGill University Health Centre at the Montreal Children’s Hospital
Personal statement: I obtained my medical degree with a specialization in pediatrics as well as a doctorate in immunology from the Université de Paris VI in France. I completed a residency in hematology, immunology and pediatrics in Paris and a postdoctoral fellowship in biochemistry at McGill University. On faculty at McGill University since 2003, I am now an associate professor in the Department of Pediatrics and an associate member of the Goodman Cancer Center and the departments of Human Genetics, Oncology, and Experimental Medicine. As a pediatric hemato-oncologist at the Montreal Children’s Hospital of the McGill University Health Centre, I serve as the primary physician for children with brain tumours, the leading cause of cancer-related mortality and morbidity in children. As a clinician-scientist, I aim to identify molecular alterations underlying pediatric gliomas. Last year, my group helped make a major genetic breakthrough for brain cancer in children. Published in the journals Nature, and Cancer Cell our studies identify two genetic mutations involved in up to 40% of pediatric glioblastomas, a fatal cancer of the brain. We identified changes in an important gene known as histone 3.3 in a significant fraction of children and young adults with glioblastoma. This histone gene is involved in regulating the development and growth of many body tissues, but particularly the brain, as we are now learning. These mutations partly explain why this cancer remains unresponsive to treatments. Importantly, they identify a new pathway that may represent a new therapeutic option in glioblastoma and open a more productive approach to treating this and other cancers.
Dr. Elena Kolomietz
Dr. Elena Kolomietz received her medical degree from the State Medical Academy, St. Petersburg, Russia and her PhD in Genetics from the University of Toronto in 2002. She did her Canadian College of Medical Geneticists fellowship training at the University of Toronto, joined Mount Sinai Hospital/Hospital for Sick Children program. Dr. Kolomietz is a Fellow of the Canadian College of Medical Geneticists and American College of Medical Geneticists. She joined the staff of the Department of Pathology and Laboratory Medicine at Mount Sinai Hospital in 2004 and is currently the Co-Head of the Division of Diagnostic Medical Genetics in the Department of Pathology and Laboratory Medicine at Mount Sinai Hospital. She is also an Assistant Professor in the Department of Laboratory Medicine and Pathobiology at the University of Toronto. Dr. Kolomietz received several awards, including Governor-General Fellowship Award, Leukemia Research Fund of Canada in 2001.
Dr Jordan Lerner-Ellis currently serves as Head of Advanced Molecular Diagnostics at Toronto’s Mount Sinai Hospital. His laboratory provides clinical diagnostic services for hereditary breast, ovarian and colon cancer, and other genetic testing areas, for downtown Toronto and the province of Ontario. He holds the position of Assistant Professor in the University of Toronto’s Department of Laboratory Medicine and Pathobiology and is an Associate at the Ontario Institute for Cancer Research. Dr Lerner-Ellis completed his PhD in human genetics at McGill University. He continued his studies at the Children’s Hospital in Basel Switzerland before moving onto a postdoctoral fellowship
in Molecular Biology at Harvard University, the Massachusetts General Hospital and in Medical and Population Genetics at the Broad Institute. Following his postdoctoral studies, Dr. Lerner-Ellis completed the Clinical Molecular Genetics training program at Harvard Medical School, and is a diplomat of the American Board of Medical Genetics. Dr. Lerner-Ellis’s is a molecular geneticist with a core interest in molecular diagnostics as applied to breast and colon cancer. His research is focused on providing major improvements in the clinical sensitivity of genetic testing through greater reliance on new sequencing technologies.
Ian M. MacDonald MSc, MD CM
Ian M. MacDonald MSc, MD CM is Professor and Chair of the Department of Ophthalmology, University of Alberta and Edmonton Zone Chief of the Ophthalmology Program of Alberta Health Services. From 2007-2008, he served for a two year term as Branch Chief of Ophthalmic Genetics at the National Eye Institute of the NIH. Dr. MacDonald completed residency training in Family Medicine at McGill University, Montreal, Ophthalmology residency training at the University of Ottawa and Clinical Genetics fellowship training at the University of Ottawa, Queen’s University, Kingston and the Hospital for Sick Children, Toronto. Dr. MacDonald is a member of the International Society for Genetic Eye Diseases & Retinoblastoma, the International Society for Clinical Electrophysiology and Vision. He has been a President of the Canadian Association of Pediatric Ophthalmologists, and President of the Association of Canadian University Professors of Ophthalmology. He is an Editor Emeritus of the Canadian Journal of Ophthalmology and currently serves on the Editorial Board of Survey of Ophthalmology and the American Journal of Ophthalmology for Genetics.
Dr. MacDonald has maintained continuous external grant funding throughout his career. Prior to becoming Chair in Edmonton, in 1992, he was a Career Scientist of the Ontario Ministry of Health at the University of Ottawa. His areas of interest are inherited retinal disorders, in particular, maculopathies and choroideremia. In 2009, in recognition of his work in Canada to foster the development of academic Ophthalmology, he was elected to as a Fellow of the Canadian Academy of Health Sciences.
Research Support: Choroideremia Research Foundation, Canada; Foundation Fighting Blindness, Canada, Canadian Institutes for Health Research.
Dr. Alexander MacKenzie
Alex MacKenzie, pediatrician at the Children's Hospital of Eastern Ontario (CHEO) and professor of pediatrics uOttawa, has served as the CEO of the CHEO Research Institute, VP Research for both CHEO and Genome Canada and founding scientist of the biotech AeGera. Dr. MacKenzie has studied the rare pediatric disorder spinal muscular atrophy over the past 25 years and in recent years a larger number of rare diseases.
Dr. Christian Marshall
Dr. Christian Marshall has worked with Dr. Stephen Scherer since 2005 after receiving his PhD in Molecular Biology and Biochemistry from Simon Fraser University. As a Post Doctorate fellow and later a Research Associate in the Scherer laboratory he led many aspects of the Genome Canada Autism Genome Project including study design, genome wide analysis, and interpretation of experimental results. In 2011, Dr. Marshall became the program manager and assistant director for the University of Toronto McLaughlin Centre whose mandate is to support the enhancement of genomic medicine through research and education. In his current position Dr. Marshall manages several projects aimed at the medical annotation of genomes.
Jeffrey A. Medin, PhD
Jeffrey A. Medin received his Ph.D. in Biochemistry from the University of Kentucky where he studied protein expression and enzymology with Mary Sue Coleman. He then spent time at the NIH, studying gene transcription with Keiko Ozato and lysosomal storage disorders/gene therapy with Roscoe Brady. Following this, he was recruited to the University of Illinois-Chicago. In 2001, Dr. Medin joined the University Health Network (UHN) in Toronto. He is now a Senior Scientist at the UHN and a full Professor at the University of Toronto. His lab focuses on the development and implementation of gene therapy using integrating viral vectors for inherited and acquired disorders. He has published over 100 peer-reviewed papers, edited an immunotherapy book, and given over 100 invited presentations.
Seema Mital, MD, FACC, FAHA, FRCPC
Roma and Marvin Auerback Professor of Developmental Cardiology and Congenital Heart Research, Faculty of Medicine, University of Toronto
Dr. Mital completed Pediatrics at Wayne State University, Michigan, in 1996, and Pediatric Cardiology Fellowship at Columbia University, New York in 1999. She was Assistant Professor of Pediatrics in Columbia University, Morgan-Stanley Children’s Hospital of New York, until 2007 when she joined SickKids Hospital as a Staff Cardiologist. Her clinical expertise is in pediatric heart failure and transplantation and research interests focus on the application of genomics, pharmacogenomics and stem cell biology to the study of childhood heart disease. She established the SickKids Heart Centre Biobank Registry, an Ontario-wide biobank of children and adults with congenital and other heart diseases, a national Pediatric Transplant Research Network, as well as an international research network for the study of the genomic basis of cardiac malformations, GenomeHeart. She is a PI of the NIH funded Pediatric Heart Network for conducting clinical trials in children with heart disease.
Jillian graduated from the University of Toronto’s genetic counselling program in 2000. Since then, she has worked at several specialty genetics clinics, including at the Centre for Addiction and Mental Health, Sickkids, the IWK Health Centre and the University Health Network. It was at the IWK that Jillian first became involved in inherited heart disease, an area of medical genetics close to her heart.
While working at the IWK, Jillian was involved in the development of a multidisciplinary Inherited Heart Disease Clinic. This Clinic was established to provide a comprehensive approach to the family with inherited heart disease and provides service to all three Maritime Provinces. Now at the Fred A Litwin Family Centre in Genetic Medicine at the University Health Network and Mount Sinai Hospital, Jillian continues to provide genetic counselling to individuals with and at risk for inherited heart disease, in addition to adult genetic disorders in general.
Dr. Sarah Sawyer
Dr. Sawyer completed PhD. in Genomics at the Karolinksa Institute in Stockholm, Sweden. From there she returned to Canada for medical school at the University of Calgary where she earned her M.D. and completed her residency training in Medical Genetics. Following this she moved to Ottawa for a one year clinical and research fellowship in Neurogenetics and Translational Genomics with Dr. Kym Boycott. She is now working as a clinical geneticist at the Children’s Hospital of Eastern Ontario with a focus in the pediatric cancer syndromes. She also continues to be active in bringing next generation sequencing technologies into clinical practice.
Andrea earned her B.Sc. in Human biology at the University Toronto, and then graduated from the Genetic Counselling Program at the University of Cincinnati, earning a joint Master's degree in Biological Sciences and Genetic Counselling. She currently works at the Hospital for Sick Children where she coordinates their Multidisciplinary 22q11 Deletion Syndrome Clinic and provides clinical care to a variety of patient groups. As faculty in the Master's in Genetic Counselling Training Program at U of Toronto, Andrea teaches and supervises graduate students and medical trainees. She also has an appointment in the SickKids Research Institute, with a special interest in translational clinical research for defined patient populations (such as 22q11 DS and NF1).
Jim Stavropoulos, PhD, FCCMG
Jim Stavropoulos is a Cytogenetics Laboratory Director in the Department of Paediatric Laboratory Medicine at The Hospital for Sick Children, and Assistant Professor in the Department of Laboratory Medicine and Pathobiology at the University of Toronto. Dr Stavropoulos received his B.Sc. (Biology) at McMaster University, and his Ph.D. in the Department of Molecular Genetics at the University of Toronto. In 2007 he completed Cytogenetics training with the Canadian College of Medical Geneticists at The Hospital for Sick Children. Dr. Stavropoulos is interested in understanding the genetic factors associated with neurodevelopmental abnormalities. He is also interested in utilizing new genomic technologies for the diagnosis of developmental disorders.
Michael David Taylor, M.D. FRCS PhD
As a practicing pediatric neurosurgeon/clinician scientist, my research focuses on using tools from human genetics/genomics, and from mouse models to better understand the biology of pediatric brain tumors, particularly medulloblastoma and ependymoma. As someone who is comfortable in both the clinic and at the bench, I have a great deal to offer in the development of translational research for medulloblastoma. I have previously described a number of the genetic events that are thought to drive the pathogenesis of medulloblastoma. More recently my laboratory has developed functional genomic mouse models of medulloblastoma to help better interpret our genomic studies of human medulloblastoma. I am the creator, and principal investigator of the Medulloblastoma Advanced Genomics International Consortium (MAGIC), through which I have collected >1400 flash frozen medulloblastomas from over 60 high quality pediatric neuro-oncology centers from around the world. My clinical expertise, my prior research experience in the field, and my current resources uniquely position me to contribute to genetic/genomic studies on medulloblastoma and ependymoma.
Rosanna Weksberg MD PHD
Rosanna Weksberg, MD, PhD, is a Professor of Pediatrics and Medical Genetics at the Hospital for Sick Children and the University of Toronto. She has worked on human imprinting disorders and growth-related conditions since 1995, and has published extensively in this area. Dr. Weksberg’s current research focuses on the epigenetic basis of normal human development and the identification of epigenetic alterations associated with human disease, especially in growth and neurodevelopmental disorders. Key areas of research in the lab involve the characterization of the effects on the epigenotype of genetic variation including sex differences and of environmental exposures such as assisted reproduction and therapeutic agents. Dr. Weksberg is funded by CIHR and NSERC. She is a Founding Member of the Organization for the Study of Sex Differences and was on the Organizing Committee for their Annual Conferences in 2007-2009. Dr. Weksberg is an Associate Editor for the American Journal of Medical Genetics and an Editor for Frontiers in Epigenomics.
Burton B. Yang, Ph.D. Sunnybrook Health Sciences Centre
Feb1998 – present Full Member, Graduate Studies, Faculty of Medicine, University of Toronto.
Jul2005 – present Senior Scientist, Molecular & Cellular Biology, Sunnybrook Research Institute, Sunnybrook Health Sciences Centre
Jul2007 – present Professor, Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto.
Jul2009 – present Professor, cross appointment, Institute of Medical Sciences, Faculty of Medicine, University of Toronto.