About the Network

Canada is at the forefront of identification of rare disease genes and this Network represents a truly national consortium that connects the infrastructure and leadership of Canada’s gene discovery projects with the model organism scientist communities of yeast, C.elegans (worm), zebrafish, Drosophila (‘fruit fly’) and mouse. Network administration is provided by the Maternal Infant Child & Youth Research Network (MICYRN) which joins 23 specialist networks and 20 maternal-child health research organizations based at academic health centers across the country, ensuring engagement of clinicians and rapid communication of Network activities. The Network was initiated with funding from the CIHR Institute of Genetics and Genome Canada. Funding from Genome BC supported development of the registry of model organism scientists. The Network welcomes proposals from other organizations such as rare disease foundations who are interested in supporting catalyst grants. [contact us]

Links to Canadian rare disease gene discovery projects:

Network Leadership

Principal Applicants The Network is overseen by Philip Hieter, nominated Principal Applicant, Kym Boycott and Janet Rossant. The principal applicants are excluded from applying for Catalyst Grant project funds.

Governance Oversight Committee (GOC)The GOC is responsible for the overall coordination, accountability & administration of the Network. The GOC is chaired by the nominated principal applicant (Hieter) and includes co-applicants (Boycott and Rossant), the head of the Network Administrative-Coordinating Centre (Junker), co-Chair of the Scientific Advisory Committee (Rachubinski) and co-Chair of the Clinical Advisory Committee (Campeau).

Scientific Advisory Committee (SAC) The SAC is responsible for setting and monitoring the Network’s priorities and objectives. The SAC is responsible for inviting scientists working with model organisms to respond to clinical gene discovery proposals relevant to their areas of interest.

Co-chairs: Philip Hieter, Richard Rachubinski
Members: Berman, Boycott, Campeau, Hicks, Junker, Leroux, Lipshitz, Masson, McMaster, Rossant, Shoubridge

Clinical Advisory Committee (CAC) The CAC is responsible for setting and monitoring the clinical criteria to enable prioritization of Network projects. The CAC conducts the first review of a clinical gene discovery proposal. Submit a disease gene to establish a connection.

Co-chairs: Kym Boycott, Philippe Campeau
Members: Cohn, Hamilton, Junker, MacDonald, Turvey, van Karnebeek, Michaud

BioInformatics Core (BIC)The BIC runs a set of analyses to provide the SAC and applicant some basic information about genes of interest. The BIC also manages the Network Registry which is used to identify model organism scientists that can be invited to submit proposals to interrogate genes/pathways. Register as a Model Organism Investigator.

Co-chairs: Paul Pavlidis, Wyeth Wasserman

Network Administrative Coordinating CentreThe Network Coordinating Center provides logistical support to the Network committees, and is responsible for managing the receipt and flow of applications for catalyst grants, the website, and news about the Network.

Head: Anne Junker

Biographies

Berman, Jason MD FRCPC FAAP MSCS

Berman, Jason MD FRCPC FAAP MSC is Associate Professor (Oncology), Departments of Pediatrics, Microbiology & Immunology and Pathology, Dalhousie University; and Cancer Care Nova Scotia Peggy Davison Clinician Scientist, IWK Health Centre. He conducts pioneering research using the zebrafish model to study hematopoiesis and oncogenesis. He is an active member and participant in zebrafish and cancer research organizations including: the Atlantic Zebrafish Users Group Canadian Zebrafish Investigators, International and European Zebrafish Genetics and Development Investigators (Cancer and Immunology), Beatrice Hunter Research Institute, Canadian Cancer Society, Children’s Oncology Group, American Academy of Cancer Research and American Society of Hematology.

Boycott, Kym MD PhD

Boycott, Kym MD PhD is Associate Professor, Pediatrics at the University of Ottawa and clinical geneticist at the Children's Hospital of Eastern Ontario holds a Research Chair in Neurogenetics. Dr. Boycott conducts RD gene identification using next-generation sequencing approaches. She is the founder of the highly successful national FORGE consortium, and current lead of the large scale Genome Canada Care for Rare project. Dr. Boycott is recipient of numerous awards and co-chair of the IRDiRC Diagnostics Committee.

Campeau, Philippe MD

Campeau, Philippe MD is Clinical Assistant Professor, Department of Pediatrics, University of Montreal, and a clinical geneticist at the CHU Sainte-Justine. Dr. Campeau focuses his clinical and research activities on identifying skeletal dysplasia genes and modeling them in cellular and murine systems. Through exome sequencing and by fostering international collaborations, he identified the genetic cause of genitopatellar syndrome (KAT6B), a form of osteopetrosis (SLC29A3), a form of osteogenesis imperfecta and early onset osteoporosis (WNT1), Yunis-Varon syndrome (FIG4) and DOORS syndrome (TBC1D24), which associates deafness with epilepsy and skeletal abnormalities. The current focus of his laboratory is to better understand the processing and transport of GPI-anchored proteins, and to identify new therapies for low bone mass. He dedicates 75% of his time to research and is a recipient of a CIHR Clinician-Scientist salary award.

Cohn, Ronald MD FACMG

Cohn, Ronald MD FACMG is Associate Professor, Department of Pediatrics and Department of Molecular Genetics, University of Toronto and Chief, Clinical and Metabolic Genetics at the Hospital for Sick Children; Senior Scientist, Genetics & Genome Biology, Sick Kids Research Institute and Co-Director (with autism researcher Dr. Stephen Scherer) of the SickKids Centre for Genetic Medicine. He brings expertise in rare neuromuscular disorders.

Hamilton, Robert MD

Hamilton, Robert MD is Professor, Pediatrics, University of Toronto and Section Head, (1998 to 2013) Electrophysiology, Cardiology, the Hospital for Sick Children; Senior Associate Scientist, Physiology & Experimental Medicine, Sick Kids Research Institute. Dr. Hamilton was founding scientific advisor to the SADS (Sudden Arrhythmia Death Syndromes) Canada patient support group. He brings expertise in genetics & therapy of rare, high-risk hereditary heart conditions.

Hicks, Geoffrey PhD

Hicks, Geoffrey PhD is Professor (Biochemistry & Medical Genetics), University of Manitoba; Director, Regenerative Medicine Program; Senior Scientist, Manitoba Institute of Cell Biology; Director, Mammalian Functional Genomics Centre; and Scientific Director, Genetic Modeling Centre, University of Manitoba. The Centre is a leading international Mammalian Functional Genomics facility developing technology to greatly speed up the process of moving from gene identity to discovering gene function in vivo. One major project is deriving cell lines to generate “knock-out” mice for any given gene. Research interests include understanding the contributions of FUS/TLS mutations in ALS and Cancer.

Hieter, Philip PhD FRSC FCAHS

Hieter, Philipd PhD FRSC FCAHS is Professor of Medical Genetics in the Michael Smith Laboratories, University of British Columbia. He is recognized for his work on structural and regulatory proteins that ensure faithful segregation of chromosomes during cell division. Throughout his career, his work has demonstrated and advocated the value of yeast and other model experimental organisms for understanding mechanisms of human disease. He sits on numerous national and international advisory boards and review panels. In 2012, he served as President of the Genetics Society of America, and is currently Co-Chair of the CIHR Institute of Genetics Planning and Priorities Committee “Models and Mechanisms to Therapies”, and Chair of the Model Systems Working Group at IRDiRC.

Junker, Anne MD

Junker, Anne MD is Associate Professor and Associate Head, Faculty Development, Department of Pediatrics, University of British Columbia and a rare disease practitioner in immunodeficiency disorders at the BC Children's Hospital in Vancouver. Dr. Junker is Scientific Director of the Maternal Infant Child & Youth Research Network of Canada.. She sits, representing Canada on the Coordinating Group of the European Network for Pediatric Research of the European Medicines Agency (Enpr-EMA), and has established links with the UK-Medicines for Children Research Network and USA Pediatric Trials Network to ensure Canadian engagement in international clinical trials. She dedicates 80% of her time to these research activities.

Leroux, Michel PhD

Leroux, Michel PhD is Professor, Molecular Biology and Biochemistry, Simon Fraser University; CIHR New Investigator and MSFHR senior scholar. He brings expertise on the functional genomics of cilia, the microtubule-based organelles, with a focus on discovering proteins needed for the formation, maintenance and function of cilia using C. elegans as a model system, many of which are implicated in diseases (ciliopathies).

Lipshitz, Howard PhD

Lipshitz, Howard PhD is a Professor in the Department of Molecular Genetics at the University of Toronto. He served as Chair of the Department from 2005 to 2016, prior to which he was Associate Director (Faculty Development) of the SickKids Research Institute (1997-2001) and then Head of its Program in Developmental Biology (2001-2005). He has served on national and international boards and committees, including the Board of Directors of the Society for Developmental Biology and the International Drosophila Board. His research interests focus on the mechanisms and functions of post-transcriptional regulation of gene expression using genetic, genomic and computational strategies in Drosophila.

MacDonald, Ian MD, CM, FCCMG, FRCSC, FCAHS

MacDonald, Ian MD CM FCCMG FRCSC FCAHS is Professor and Chair of the Department of Ophthalmology and Visual Sciences, University of Alberta; and Clinical Professor, Department of Medical Genetics, University of Calgary. Dr. MacDonald has expertise in inherited ocular disorders and is founder of the University of Alberta Centre for Ocular Gene Therapy and PI of the Alberta Ocular Gene Therapy Team.

Masson, Jean-Yves PhD

Masson, Jean-Yves PhD/strong> is Professor, Molecular Biology, Medical Biochemistry and Pathology, Laval University. His research interests include double-stranded DNA break repair, meiosis, with expertise in Fanconi anemia (C. elegans, Drosophila and mouse).

McMaster, Christopher PhD

McMaster, Christopher PhD is Carnegie and Rockefeller Professor; Head, Department of Pharmacology; Professor of Pediatrics and Biochemistry & Molecular Biology; Dalhousie University; Senior Investigator, Atlantic Research Centre; Affiliated Scientist, IWK Health Centre. He is co-director of the Cheminformatics Drug Discovery Lab, IWK Health Centre with expertise in Identification of drug targets and potential drugs to treat orphan diseases, and using genetic models to determine how cells maintain metabolic homeostasis. (yeast)

Michaud, Jacques MD PhD

Michaud, Jacques MD PhD is Professor, Pediatrics and Adjunct Professor, Biochemistry, Université de Montréal, and Chief of the Division of Medical Genetics at CHU Sainte-Justine; National Scientist of the Fonds de recherche du Québec - Santé (FRQS). Dr. Michaud brings expertise in neurodevelopmental disorders as co-PI using large-scale genetic approaches to identify novel genes involved in intellectual disability, epilepsy and autism.

Pavlidis, Paul PhD

Pavlidis, Paul PhD is Professor, Department of Psychiatry and the Centre for High- Throughput Biology, University of British Columbia. Dr. Pavlidis has extensive research experience in many areas of bioinformatics, especially functional genomics and neuroinformatics. He is the Scientific Director of the Neuroinformatics Core for the NeuroDevNet Network of Centres of Excellence, where he plays a leadership role in developing neuroinformatics initiatives for neurodevelopment research. He is also the Associate Director of the UBC Graduate Program in Bioinformatics and the co-founder of the Association for Canadian Neuroinformatics and Computational Neuroscience.

Rachubinski, Richard PhD

Rachubinski, Richard PhD is Professor and Chair of the Department of Cell Biology, Faculty of Medicine & Dentistry, at the University of Alberta. Dr. Rachubinski has been investigating and elucidating the molecules and mechanisms controlling the biogenesis of peroxisomes, membrane enclosed organelles involved in lipid metabolism and the detoxification of reactive oxygen species. Peroxisomes are essential for human survival, a fact underscored by the existence of a number of inherited genetic disorders, collectively called the peroxisome biogenesis disorders (PBDs), resulting from dysfunction of peroxisome biogenesis. To better understand the molecular bases of the PBDs, Dr. Rachubinski has defined how peroxisomes are made in cells, identified and characterized a number of genes (PEX genes) required for peroxisome biogenesis whose mutation causes the PBDs, elucidated how peroxisomes are inherited by cells to maintain the benefits of having peroxisomes, and developed an insect model of the PBDs that allows for the rapid screening of potential therapeutics to treat the disorders. Dr. Rachubinski’s work is internationally recognized and has been instrumental in taking what was once a rather obscure organelle with obscure diseases about which little was known and catapulted it into the mainstream of both basic scientific and clinical investigation.

Rossant, Janet PhD

Rossant, Janet PhD is University Professor, Department of Molecular Genetics, University of Toronto and Chief of Research, Hospital for Sick Children. She is a mammalian developmental geneticist who has led a number of Genome Canada and CIHR-funded large-scale mouse mutagenesis projects as part of international consortia. She is currently Deputy Director of the Stem Cell Network of Canada.

Shoubridge, Eric PhD

Shoubridge, Eric PhD is Professor of Human Genetics and of Neurology and Neurosurgery; Chair, Department of Human Genetics, McGill University; James McGill Professor at McGill University, Montreal Neurological Institute, Fellow of the Royal Society of Canada, and Senior Fellow, Canadian Institute for Advanced Research. He developed the first animal models to investigate the transmission and segregation of mtDNA, and pioneered functional cloning methods to identify the genetic defects in individual patients with autosomal recessive mitochondrial disease. (human IPS cells,mouse)

Turvey, Stuart MD PhD

Turvey, Stuart MD PhD is Professor (Clinical Immunology & Allergy), Pediatrics, University of British Columbia; Senior Clinician Scientist and Director, Clinical Research, Child & Family Research Institute. Dr. Turvey is co-investigator on the Canadian Healthy Infant Longitudinal Development (CHILD) cohort Study and has expertise in gene discovery and interrogation of pathogenesis of primary immunodeficiency and inflammatory disorders.

van Karnebeek, Clara MD PhD FCCMG

van Karnebeek, Clara MD PhD FCCMG is Assistant Professor (Biochemical Diseases), Pediatrics, University of British Columbia; Associate Member, Centre for Molecular Medicine and Therapeutics, and Associate Clinician Scientist, Child & Family Research Institute. Dr. van Karnebeek is PI for the BC provincial Treatable Intellectual Disability Endeavour (TIDE-BC) & Omics2TreatID gene discovery study. She has expertise in therapy of rare metabolic diseases and the genetics of intellectual disability.

Wasserman, Wyeth PhD

Wasserman, Wyeth PhD is Professor of Medical Genetics and Executive Director of Child and Family Research Institute, UBC. Dr. Wasserman is a computational biologist specializing in the analysis of DNA sequence data. His research lab based at BC Children’s Hospital has increasingly focused on the identification of causal mutations underlying rare pediatric disorders. Recent publications describe exome-based discovery of mutations causing hyperammonemia and early-onset Parkinson’s Disease. New bioinformatics methods emerging from the lab utilize literature annotations to discovery relationships between genes, diseases and researchers. Dr. Wasserman has published in numerous national and international consortia, including the RIKEN Fantom5 project and the Canadian Genetic Diseases Network. He presently leads a large-scale Genome Canada ABC4DE project for the study of whole genome sequence data.

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