Presenter Profiles

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Fowzan Sami Alkuraya

South Africa, Professor and Principal Scientist, King Faisal Specialist Hospital and Research Center
Fowzan Alkuraya is a Professor of Human Genetics at Alfaisal University and a Senior Consultant and Principal Clinical Scientist at King Faisal Specialist Hospital and Research Center. He graduated with first class honor and was the valedictorian of his class at the College of Medicine, King Saud University, Riyadh, Saudi Arabia. He did his pediatric residency at Georgetown University Hospital, followed by a fellowship in clinical genetics and another in molecular genetics at Harvard Medical School. He also did a postdoctoral research fellowship in the area of developmental genetics in the lab of Prof. Richard Maas at Harvard Medical School. He returned to his native Saudi Arabia to establish the Developmental Genetics Lab at KFSHRC. He is an authority in the area of Mendelian genetics with more than 360 published manuscripts that describe his lab’s discovery of hundreds of novel disease genes in humans as well as many other seminal contributions to the field of human genetics as described in a profile published by The Lancet. He is a frequently invited speaker at local, regional and international conferences, on the editorial board of prominent human genetics journals, and the recipient of numerous prestigious awards including William King Bowes Award in Medical Genetics and King Salman Award for Disability Research.

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Frederick R. Bieber

Medical Geneticist, Brigham and Women's Hospital Associate Professor of Pathology Harvard Medical School
Frederick R. Bieber has been a member of the Faculty of Medicine at Harvard University for over 37 years, where he directs formal courses in genetics and forensics offered to Harvard undergraduate, graduate, medical students as well as to post-doctoral fellows. As an ABMGG Board-Certified Medical Geneticist at Brigham and Women's Hospital, Dr. Bieber provides clinical diagnostic genetic laboratory testing to patients and their families in the Partners Healthcare System. His academic work focuses on the laboratory and statistical aspects of DNA-based human identification, with a focus on kinship analysis and its attendant legal, ethical, and policy implications.
Dr. Bieber has served as an appointed member of the National DNA Databank of Canada Advisory Committee since its inception in 2000, as a member of the DNA Subcommittee of the New York State Forensic Commission, and as Chair of the Quality Assurance oversight committee of the United States Army DNA Identification Laboratory (AFDIL). He has served as a member of numerous state and federal forensic advisory boards, including the congressionally mandated FBI DNA Advisory Board, and the Scientific Advisory Board of the Virginia Department of Public Safety and the National Commission on Forensic Science.
As a commissioned officer in the United States Army Reserve, Dr. Bieber served on active duty at the U.S. Army Criminal Investigation Laboratory (USACIL/Ft. Gillem, GA) and the Armed Forces DNA Identification Laboratory (AFDIL/Rockville, MD and Dover, DL). Professor Bieber was a member of the World Trade Center Kinship and Data Analysis Panel (KADAP) for the DNA-based identification of victims of the September 11th attack on the twin towers, and a member of the Hurricane Victim DNA Identification Expert Group (HVDIEG), assisting the Louisiana State Police in the DNA-based identification of victims of Hurricanes Katrina and Rita.
Dr. Bieber has testified as an expert witness in dozens of admissibility hearings and trials in state, federal, and military courts in the U.S. and Canada.

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Kathleen Bone

Department of Pathology, Medical College of Wisconsin, Milwaukee WI USA

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Dr. Stephanie Boisson-Dupuis

PhD, Senior Research Associate, Casanova Laboratory, St. Giles Laboratory of Human Genetics of infectious Diseases, The Rockerfeller University, New York, NY, USA.
I began working in the field of primary immunodeficiencies as a master’s student at the University Paris René Descartes and INSERM, France, under the guidance of Pr. Alain Fischer in 1998. I pursued this interest by joining the Laboratory of Human Genetics of Infectious Diseases (HGID), directed by Jean-Laurent Casanova and Laurent Abel, where I received my Ph.D. in Human Genetics in 2002. During the course of my research, I discovered novel genetic etiologies conferring Mendelian susceptibility to mycobacterial disease (MSMD), including a heterozygous germline STAT1 mutation associated with susceptibility to mycobacterial, but not viral disease, as well as other STAT1 deficiency leading to a broader clinical phenotype. This work has major medical implications. Elucidation of the molecular genetic basis of MSMD will shed light on the pathogenesis of mycobacterial disease, making it possible to provide molecular diagnoses for patients and genetic counseling for families. This information will pave the way for the use of IFN-γ for treatment in addition to antibiotics. Additionally, the genetic dissection of MSMD will pave the way for the genetic dissection of severe tuberculosis (TB) in otherwise healthy children. Upon completing my Ph.D., and a postdoctoral rotation in host-pathogen interactions, I was invited back to the HGID Laboratory as a Senior Researcher in 2006, and accompanied Dr. Casanova to establish the new branch of the lab at the Rockefeller University in 2008. I currently head the mycobacterial division of the laboratory consisting of 3 postdocs and 1 Ph.D. students. In collaboration with my colleagues, I am currently pursuing the molecular genetic exploration of TB. By using the candidate gene approach, we identified mutations in IL12RB1, providing the proof-of principal that TB results from single-gene inborn errors of immunity. The use of the whole exome sequencing approach allowed us to identify new genetic etiologies for severe TB of childhood, particularly TYK2 deficiency, predisposing to mycobacterial and/or viral diseases. We recently discovered the first monogenic but common genetic etiology of TB. I will pursue WES/WGS approach to further characterize the genetic predisposition to TB.

Dennis Bulman

Research Institute & Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa ON Canada
Dennis Bulman is the Molecular Lab Head and Senior Scientist at Newborn Screening Ontario. He is also a Senior Scientist and Director of the Molecular Biomedicine Program at the CHEO Research Institute and a Professor of Pediatrics at the University of Ottawa. He is board certified by both the Canadian and American College of Medical Genetics in Clinical Molecular Genetics. He is also a Diplomat of the American Board of Medical Genetics. Dr. Bulman’s research interests are in the field of Human Molecular genetics where he has published over 150 peer reviewed papers. For the last 20 years he has been involved in the identification of genes for rare genetic disorders, the translation of these discoveries to the clinic and more recently the implementation of new molecular testing paradigms to Newborn Screening.

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David Chitiyat

Head, The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mt. Sinai Hospital, Pediatrics, The Hospital for Sick Children, Toronto ON Canada

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William Gibson

Associate Professor, Dept. of Medical Genetics, UBC Senior Clinician Scientist, BC Children's Hospital, Vancouver BC Canada

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Dr. Eyal Grunebaum

Director Paediatric Clinical, Immunology & Allergy Residency Program, Immunology & Allergy, The Hospital for Sick Children, Toronto, ON, Canada

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Stacey Hume

Department of Medical Genetics, University of Alberta, Edmonton AB Canada

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Patricia Kosseim

MA, LLB, Counsel, Privacy and Data Management, Co-Lead, AccessPrivacy Osler, Hoskin & Harcourt LLP

Patricia Kosseim is Counsel in Osler's Privacy and Data Management Group and co-leads Osler’s AccessPrivacy platform, an integrated suite of innovative information solutions, consulting services and thought leadership. Patricia is a national leading expert in privacy and access law, having served over a decade as Senior General Counsel and Director General at the Office of the Privacy Commissioner of Canada (OPC). She provided strategic legal and policy advice on complex and emerging privacy issues; advised Parliament on privacy implications of legislative bills; led research initiatives on new information technologies and advanced privacy law in major litigation cases before the courts, including the Supreme Court of Canada. Prior to that, Patricia worked at Genome Canada and the Canadian Institutes of Health Research, where she developed and led national strategies for addressing legal, ethical and social aspects of health and genomic technologies. She began her career in Montreal practicing in the areas of health law, civil litigation, human rights, privacy and labor & employment with another leading national law firm.

Patricia has published and spoken extensively on matters of privacy law, health law and ethics. She has taught part-time at the University of Ottawa, Faculty of Law and has held many professional appointments and board memberships, including: Governor on the Board of Governors of The Ottawa Hospital; Chair of The Board of Directors of the Ottawa Hospital Research Institute; Vice-Chair of the Research Integrity Committee of les Fonds de recherche du Quebec; and member of the National DNA Databank Advisory Committee.

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Jack Laird

Section Head, Biology, Centre of Forensic Science, Toronto ON Canada

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Han Lin

Pathology and Laboratory Medicine, Western University, London ON Canada

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Dr. Jennifer MacKenzie

Professor, Department of Pediatrics, Divison of Genetics, McMaster University
Dr. Jennifer MacKenzie is a Professor in the Department of Pediatrics and previous interim Head of Genetics at McMaster University and an Adjunct Associate Professor at Queen’s University. Dr. MacKenzie completed her MD, Pediatric and Medical Genetics specialty training at the University of Toronto, and her Masters of Education at Queen’s University. Dr. MacKenzie has extensive experience in clinical and educational innovation and program evaluation. Her most recent project is to plan the new Introduction to Medicine curriculum for the McMaster Medical School. Dr. MacKenzie’s primary research focus is in medical education with a particular interest in medical students’ patterns of motivation, self-regulated learning, program evaluation and genetic education for non-genetic health care providers. She has extensive experience in clinical trials for rare diseases. Dr. MacKenzie has had a productive academic career with substantive peer-reviewed funding, numerous publications, and presentations.

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Lauren MacNeil, PhD, FCCMG

Biochemical Geneticist, Department of Pediatric Laboratory medicine, The Hospital for Sick Children, Toronto ON Canada
I completed a PhD in exercise physiology at McMaster University under the supervision of Dr. Mark Tarnopolsky, followed by a postdoctoral fellowship in the same lab. Over that time, my research interests evolved to include mitochondrial dysfunction associated with inactivity, aging and inherited metabolic diseases. Following the post-doctoral study with Dr. Tarnopolsky I began CCMG training with Dr. Murray Potter as a laboratory biochemical geneticist.
Since 2016 I have been the Biochemical Geneticist for the Metabolic Diseases lab at The Hospital for Sick Children (SickKids). Our library includes many small molecule metabolite tests as well as extensive coverage of lysosomal and mitochondrial enzymes in multiple specimen types.

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Dr. Alexio Muise

The Hospital for Sick Children, Toronto, ON, Canada

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Dr. Luigi D. Notarangelo

Chief, laboratory of Clinical Immunology, LCIM, National Institue of Allergy and Infectious Diseases, NIAD, National Institutes of Health NIH, Bethesda MD, USA

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Margaret Nowaczyk

Molecular Medicine & Pathology and Pediatrics, McMAster University, Hamilton ON
Margaret Nowaczyk, MD, MFA, is a Professor of Pathology and Molecular Medicine and of Pediatrics at McMaster University. Her areas of interest and expertise include Smith-Lemli-Opitz syndrome and disorders of cholesterol synthesis, neurofibromatosis and RAS pathway disorders, prenatal diagnosis, and new syndrome delineation as well as narrative medicine in clinical genetics.

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Forough Noohi

Department of Human Genetics, Faculty of Medicine, McGill, Montreal, Quebec
Forough Noohi is a PhD Candidate in the Department of Human Genetics at McGill University and Génome Québec Innovation Centre in Montreal, Canada. She obtained a Bachelor of Science in Biology (Honours) from Concordia University and a Master of Science in Human Genetics from McGill University. Her research revolves around ethical, societal and regulatory aspects of genome editing technologies and regenerative medicine, and more particularly Mitochondrial Replacement Therapy (MRT).

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Denyse Richardson

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Tracy Stockley

Research location: Toronto General Hospital/Research Institute (UHN)
Primary Research Area: Genetics, Genomics & Proteomics
Secondary Research Area: Cancer
Research Statement:

Dr. Stockley’s research interests include development of genomic tests for molecular diagnostics, application of new technologies such as Next-Generation Sequencing to clinical care for acquired and inherited disease, and quality management for high-complexity clinical laboratory testing.

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Jonathan Sherbino MD MEd FRCPC FAcadMEd DRCPSC (CE)

Assistant Dean Health Professions Education Research, McMaster University
Dr. Sherbino is the Assistant Dean, Health Professions Education Research, Faculty of Health Sciences, McMaster University. He is a professor in the Department of Medicine, McMaster University. Jonathan is the past chair of the Specialty Committee for Emergency Medicine, Royal College of Physicians &Surgeons of Canada.
Jonathan is a Clinician Educator, co-editing the CanMEDS 2015 Framework and co-hosting the KeyLIME (Key Literature in Medical Education) podcast. He is an award winning teacher, including the national Emergency Medicine teacher of the year 2018. His research focuses on clinical reasoning and diagnostic error.

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Sherryl Taylor

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Mark Tarnopolsky

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