Presenter Profiles

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Heleen H. Arts, Molecular Geneticist in Training, McMaster University

Arts Heleen PhotoThe research of Dr. Arts focused on the molecular genetics of renal ciliopathies. After completing her PhD at the Radboud University Medical Centre in Nijmegen in The Netherlands in 2010, Dr. Arts continued gene hunting for renal ciliopathies with a combination of SNP microarray analysis and whole-exome sequencing (WES) in the same institute/department. Her postdoctoral work focused on Jeune asphyxiating thoracic dystrophy (JATD) and cranioectodermal dysplasia (CED). Dr. Arts found that these disorders are caused by mutations in genes that encode proteins that regulate ciliary transport. She was a member of the international KOUNCIL consortium, which aimed to gain new genetic and basic insights into renal ciliopathies through NGS, molecular analysis of patient-derived cells, proteomics and animal modeling. From 2014 to 2016, Dr. Arts was a visiting professor at the Department of Biochemistry at the University of Western Ontario in London, where she studied the pathobiology of renal ciliopathies that occur in Amish and Mennonite communities in Canada. She is currently a molecular geneticist in training (CCMG) at McMaster University in Hamilton. 

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Dr. Mitch Gore

Dr. Gore earned his Ph.D. from Auburn University He held postdoctoral positions at the University of Alabama College of Medicine in Cardiology and at the University of Wisconsin in Kinesiology with research interests focusing on the transcriptional regulation of genes involved in cardiac and skeletal muscle growth and adaptation. He was previously the Director of Molecular Biology at Cruachem, Inc. and then Director of Life Science Technologies and New Business Development at Polysciences, Inc. In both positions he concentrated on the development and commercialization of new tools for cellular and molecular biology research. He is currently the Field Application Manager for Gene Expression and Genotyping at Integrated DNA Technologies.

Rick Guidotti

Rick Guidotti, an award-winning photographer, has spent the past twenty years collaborating internationally with advocacy organizations/NGOs, hospitals, medical schools, universities and other educational institutions to affect a sea-change in societal attitudes towards individuals living with genetic, physical, behavioral or intellectual difference; his work has been published in newspapers, magazines and journals as diverse as Elle, GQ, People, the American Journal of Medical Genetics, The Lancet, Spirituality and Health, the Washington Post, Atlantic Monthly and LIFE Magazine.

Rick is the founder and director of Positive Exposure, an innovative arts, education and advocacy organization. Positive Exposure utilizes the visual arts to significantly impact the fields of genetics, medical education, medicine, mental health and human rights, by providing new opportunities to see an individual living with a difference, first and foremost as a human being, rather than as a specific diagnosis or disease entity.

The Positive Exposure photographic exhibition premiered at the People’s Genome Celebration at the Smithsonian’s National Museum of Natural History in June 2001 and remains committed to exhibiting in galleries, museums and public arenas internationally. Positive Exposure continues to create and display ever-evolving community based exhibitions around the world. These collections of images, film and narratives celebrate the richness and beauty of human diversity. Celebrating the beauty of genetic diversity.

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Peter C. Harris, Ph.D, Professor of Biochemistry and Molecular Biology, Mayo Clinic

Dr. Peter C. Harris, PhD has been Professor of Biochemistry/Molecular Biology and Medicine in the Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota since 2000. The main focus of Dr. Harris’ career has been the study of polycystic kidney disease (PKD).  He was head of the European Consortium that identified the PKD1 gene in 1994 while in Oxford, and recently (2016) showed that GANAB was a PKD and polycystic liver disease (PLD) gene. In addition, he identified the gene for ARPKD in 2002, and found genes for Meckel syndrome in 2006 and 2011. Recent focuses of the laboratory have been to generate animal models of ADPKD that mimic the human disease, explore the role of hypomorphic alleles in ADPKD, perform genotype/phenotype studies in large ADPKD populations, and analyze the processing and localization of the PKD1 protein. He has published 253 peer reviewed papers and has an h-index of ~70. He is Associate-Director of the NIH funded Mayo Translational PKD Center at Mayo and Principal Investigator of a multicenter study to identify genetic modifiers in ADPKD, as well as two other R01 grants. He hosts the PKD Foundation funded ADPKD Mutation Database at Mayo. In 2003, he received the inaugural Lillian Jean Kaplan Prize for Advancement in the Understanding of PKD and in 2008 the Homer Smith Award from the American Society of Nephrology. 

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Nada Jabado, Professor of Pediatrics and Human Genetics, Research Institute of the McGill University Health Center

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Dr. Nada Jabado is a Professor of Pediatrics and staff physician at McGill University. She completed her residency in pediatrics with a specialization in hemato-oncology. She also obtained a PhD in Immunology in Paris, France, followed by a postdoctoral fellowship in biochemistry at McGill. She began her career as an independent investigator at McGill in 2003, pioneering a research program in pediatric brain tumors which is now unparalleled. Her group uncovered that pediatric high-grade astrocytomas (HGA) are molecularly and genetically distinct from adult tumors. More importantly, they identified a new molecular mechanism driving pediatric HGA, namely recurrent somatic driver mutations in the tail of histone 3 variants (H3.3 and H3.1).

Dr. Jabado's ground-breaking work has created a paradigm shift in cancer with the identification of histone mutations in human disease which has revolutionized this field, as the epigenome was a previously unsuspected hallmark of oncogenesis. This work and other publications are considered landmark papers (>10000 citations since 2012). Dr. Nada Jabado has over 150 peer-reviewed publications to her credit, with an impressive number of senior-author, high-impact publications in such prominent journals as Nature Genetics, Nature, Science and Cancer Cell. She is an international leader in the field of neuro-oncology/cancer, honored by invitations as keynote speaker at top ranked symposia and universities. Dr. Jabado has received numerous national and international honors while garnering prestigious salary support awards throughout her career. She is one of the best-funded investigators in Canada, with grants from CIHR, Genome Canada, NIH as well as philanthropic organizations. She was recently inducted as a Fellow to the Royal Society of Canada.

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Kim M. Keppler-Noreuil, MD

Associate Investigator
National Human Genome Research Institute
Medical Genomics and Metabolic Genetics Branch
Clinical Genomics Section
National Institutes of Health

 

Kim Keppler-Noreuil, MD completed her B.A. in Biology and French from Grinnell College in Grinnell, Iowa in 1984. In 1989, she earned her M.D. from Southern Illinois University School of Medicine in Springfield, Illinois. She completed her pediatric residency at the Arkansas Children’s hospital, University of Arkansas for Medical Science in Little Rock, Arkansas in 1992, and her fellowship in Medical Genetics in the Department of Pediatrics, Laboratory of Medical Genetics at the University of Alabama at Birmingham in Birmingham, Alabama in 1995. Dr. Keppler-Noreuil served as Instructor of Pediatrics and Medical Genetics at the University of Alabama at Birmingham until 1996. She joined the faculty of the University of Iowa in the Dept. of Pediatrics and Div. of Medical Genetics in 1996 until 2012, where she held an academic position of Professor of Pediatrics. At the University of Iowa, she served as Clinical Director for Birth Defects for the Iowa Registry for Congenital and Inherited Disorders, and Program Director of the Medical Genetics Residency Training Program, Maternal-Fetal Medicine/ Medical Genetics Training Program, Division of Medical Genetics. She also served as Co-Director of the Medical Genetics Course for the first-year medical students. She came to the National Human Genome Research Institute in 2012. Dr. Keppler-Noreuil clinical and research interests have included further delineation of the clinical findings and complications in PROS and Proteus syndrome, and the role of somatic mutations in the PI3K/AKT/mTOR pathway, and development of targeted clinical drug treatment trials for these disorders. Her other areas of research have included clinical delineation of multiple malformation syndromes, and studies of epidemiology and pathogenesis of birth defects, and genetic disorders.

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Sylvie Langlois, Professor, University of British Columbia

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Dr. Sylvie Langlois obtained her MD degree from the University of Sherbrooke in Quebec. She went on to do specialty training in Pediatrics at McGill University and Fellowship training in Clinical and Molecular Genetics at the University of British Columbia. She has been a clinical geneticist at the Children’s and Women’s Health Center since 1989 and is a Professor in the Dept. of Medical Genetics at the University of British Columbia. She has been the medical director of the BC Prenatal Genetic Screening Program since its implementation. Her research contributions have been in prenatal diagnosis and molecular genetics. She is the co-PI of PEGASUS, a Genome Canada funded research project on Non Invasive Prenatal Testing.

Howard Lim, Medical Oncologist, B.C. Cancer Agency

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Dr. Howard Lim is a Medical Oncologist involved in genomic based clinical research at the B.C. Cancer Agency.  He completed his training in Medical Oncology at UBC and GI Oncology at UBC and the Oregon Health Sciences University.  He is the chair of the GI tumour group and Program Director of the Medical Oncology Training Program.  He is involved in Personalized OncoGenomics Program (POG) as well as chairs the ethical oversight committee of the program involving germline results.

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Ghayda Mirzaa, M.D. Assistant Professor, University of Washington

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I am a geneticist and researcher with board certifications in pediatrics, medical genetics, and molecular genetics. The goal of my research is to investigate the genetic basis of human developmental brain disorders, including brain growth abnormalities, malformations of cortical development, autism and epilepsy. My earlier work has focused on the delineation and gene discovery for several disorders associated with brain malformations and epilepsy including the megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome, the megalencephaly-capillary malformation (MCAP) syndrome, ARX- and CDKL5-related epilepsy in children, and several microcephaly syndromes (Mirzaa et al., Neuropediatrics 2004; Mirzaa et al., AJMG 2012; McDonell et al., Nature Genetics 2013; Mirzaa et al., Pediatric Neurology 2013; Mirzaa et al., Human Genetics 2014). My work on the PI3K-AKT-MTOR related disorders has led to the identification of several genes within this pathway that cause brain overgrowth and focal cortical dysplasia (Rivière et al., Nature Genetics 2012; Mirzaa et al., Nature Genetics 2014; Jansen et al., Brain 2015; Mirzaa et al., Lancet Neurology, 2015; Mirzaa et al., JAMA Neurology, 2016).

My research focuses on identifying the molecular and cellular abnormalities of developmental brain disorders in affected human neurological tissues, with a special emphasis on the detection of low frequency genetic variation and pathway dysregulation using high throughput genomic, transcriptomic, and proteomic methods to facilitate molecularly targeted therapeutic trials. 

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Vardit Ravitsky, Associate Professor, University of Montreal

Vardit Ravitsky is Associate Professor at the Bioethics Program, School of Public Health, University of Montreal and Director of Ethics and Health at the Center for Research on Ethics. Ravitsky is Vice-President of the International Association of Bioethics, member of the Standing Committee on Ethics of the Canadian Institutes of Health Research (CIHR) and of the Institute Advisory Board of CIHR’s Institute of Genetics. She is also member of the National Human Genome Research Institute’s (NHGRI) Genomics & Society Working Group. Previously, she was faculty at the Department of Medical Ethics at the University of Pennsylvania.

Ravitsky's research focuses on the ethics of genomics and reproduction. She is particularly interested in the various ways in which cultural frameworks shape public debate and public policy in the area of bioethics. Her research is funded by CIHR, FRQSC, SSHRC, and Genome Canada. She published over 100 articles and commentaries on bioethical issues. She holds a BA from the Sorbonne University in Paris, an MA from the University of New Mexico in the US, and a PhD from Bar-Ilan University in Israel.

Norman Rosenblum, Pediatric Nephrologist, Senior Scientist, The Hospital for Sick Children, U Toronto

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Dr. Norman Rosenblum is Professor of Paediatrics, Physiology, and Laboratory Medicine and Pathobiology at the University of Toronto, and a Paediatric Nephrologist and Senior Scientist in the Research Institute, the Hospital for Sick Children. He is the recipient of a Tier I Canada Research Chair in Developmental Nephrology. In 2018, Dr. Rosenblum assumed the role of Scientific Director of the Canadian Institutes of Health Research (CIHR) Institute of Nutrition, Metabolism and Diabetes (INMD). 

Dr. Rosenblum is a MD graduate of Dalhousie University. He completed a Pediatric residency and a fellowship in Pediatric Nephrology at the Children's Hospital, Boston followed by a postdoctoral fellowship in the laboratory of Bjorn Olsen in the Department of Anatomy and Cell Biology, Harvard Medical School. Dr. Rosenblum was recruited in 1993 as a clinician scientist to the Hospital for Sick Children and University of Toronto. Since then, the focus of his research has been to elucidate molecular mechanisms that control normal and malformed kidney development in genetic mouse models with a focus on signaling by bone morphogenetic, WNT and Hedgehog proteins. His lab has generated several models of human kidney-urinary tract malformation. He has published over 110 peer-reviewed original manuscripts and book chapters.

Dr. Rosenblum has been deeply engaged in developing and managing career development programs for clinician scientists. He founded and led the Canadian Child Health Clinician Scientist Program from 2001-2012 and served as Associate Dean, Physician Scientist Training in the Faculty of Medicine, University of Toronto, from 2008-2017. Dr. Rosenblum is immediate Past-President of the Canadian Society for Clinical Investigation and a current member of the Council of the American Pediatric Society. He is a founding member of the EUREKA Institute for Translational Medicine.

Dr. Rosenblum is the recipient of the 2004 Aventis Pasteur Research Award, the American Pediatric Society inaugural 2006 Norman J. Siegel New Member Outstanding Science Award, the Society for Pediatric Research 2010 Maureen Andrew Award in Mentoring, and the Kidney Foundation of Canada 2011 Medal for Research Excellence.

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Stephen W. Scherer, PhD DSc FRSC, Senior Scientist, Hospital for Sick Children, Toronto Ontario

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One of the most highly cited scientists in the world, Dr. Scherer and his team contributed to the landmark discovery of global gene copy number variation (CNV), as a common form of genetic variation in human DNA. Defining CNV revealed that genes often don’t exist in pairs of two along chromosomes, as was originally thought. His group then identified that CNV affecting specific neurodevelopmental genes are associated with autism, and many other related disorders. He founded the Database of Genomic Variants that facilitates thousands of clinical diagnoses each day. He also directs the massive Autism Speaks MSSNG ‘open science’ project sequencing the genomes of 10,000 families to catalyze autism research worldwide. Dr. Scherer has won numerous honors, including the Steacie Prize, a Howard Hughes Medical Institute Scholarship, and the Premier’s Summit Award for Medical Research. He is a Fellow of the Royal Society of Canada and the American Association for the Advancement of Science, and a Senior Fellow of the Canadian Institute for Advanced Research. In 2014, he was selected as a Thomson Reuters Citation Laureate in the field of Physiology or Medicine for “the discovery of large-scale CNV and its association with specific diseases.” Dr. Scherer holds the GSK-CIHR Endowed Chair in Genome Sciences at The Hospital for Sick Children and University of Toronto (UofT), and is Director of the UofT McLaughlin Centre and The Centre for Applied Genomics at SickKids.

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Katrina Tatton-Brown, Consultant and Reader in Clinical Genetics, St George's University of London

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Katrina Tatton-Brown is a Consultant Clinical Geneticist and Reader in Clinical Genetics and Genomic Education. She works at St George’s University Hospitals NHS Foundation Trust, St George’s University of London and the Institute of Cancer Research. She has a research and clinical interest in overgrowth and intellectual disability (OGID) syndromes and holds a dedicated clinic for children with OGID syndromes and has published widely in this area. Katrina is also heavily involved with education and training and has been involved in the development of several genomics massive open online courses (MOOCs) that have been globally accessed and a postgraduate certificate in clinical genomics.

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Rosanna Weksberg, Senior Associate Scientist/Clinical Geneticist, The Hospital for Sick Children/University of Toronto

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Rosanna Weksberg, MD, PhD, is a Professor of Pediatrics and Medical Genetics at the Hospital for Sick Children and University of Toronto. She has worked on human imprinting disorders and growth-related conditions since 1995, and has published extensively in these areas. 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 study of genetic variation and environmental exposures such as assisted reproduction on the epigenotype. Dr. Weksberg is funded by CIHR, NSERC, OBI and Brain Canada. She is a Founding Member of the Organization for the Study of Sex Differences, and is an Associate Editor for the American Journal of Medical Genetics.

R Douglas Wilson, Professor and Department Head, CDM University of Calgary / Alberta Health Services

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December 2008 - Present position: Professor and Department Head Obstetrics and Gynecology (cross appointment Medical Genetics)  
Cumming School of Medicine University of Calgary Alberta Health Services Calgary Zone
Foothills Medical Center, Calgary Alberta Canada

Previous Academic Locations:
Children’s Hospital of Philadelphia, University of Pennsylvania Philadelphia PA, Professor of Surgery / Obstetrics and Gynecology, Center for Fetal Diagnosis and Treatment, Hospital of the University of Pennsylvania
July 2001-November 2008

University of British Columbia, BC Children’s and Women’s, Hospital, Vancouver BC Canada, Professor of Obstetrics /Gynecology/ Medical Genetics
July1985-June2001

Educational sites: Undergraduate: University of British Columbia BSc Chem 1971
MSc Genetics 1975
Medical: University of British Columbia 1977
Rotating Internship: Cook Hospital Gisborne NZ 1977-1978
Residency: University of British Columbia O/G 1979-1983
Fellowship: University of British Columbia Med Genetics 1983-1985

Academic and Research Interests: Prenatal Diagnosis (non-invasive; invasive)
Fetal Therapy
Fetal Anomalies
Fetal Imaging
Prenatal Screening and Risk Reduction
Preconception Risk Management

Editorial Board: Fetal Diagnosis and Therapy
Prenatal Diagnosis
Journal of Obstetrics and Gynecology Canada
Committee Chair: SOGC Genetics Committee (1988-2016)

Academic Societies: SOGC, ACOG, ISPD / BOD, SMFM, AIUM, Fetoscopy Working Group

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Dr. Gerasimos Zaharatos

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