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 (Lacaze), 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
Members: Berman, Boycott, Campeau, Hicks, Wozniak, Leroux, Lipshitz, Masson, 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: Hamilton, Vandersteen, van Karnebeek, Frosk, Lehman, Dyment, Innes

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: Thierry Lacaze

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.

Dyment, David DPhil, MD, FRCPC

Dr. Dyment is a clinical investigator at the Children's Hospital of Eastern Ontario (CHEO) Research Institute and an Associate Professor at the University of Ottawa. He completed his graduate training in the genetics of complex disease at the University of Oxford and medical training at the University of Calgary. He is a clinician in the Neurogenetics Program at CHEO and his research focus is the identification of rare epilepsy genes and the study of Dravet syndrome. He is the past recipient of a CIHR Clinical Investigator award and has a Tier 2 Research Chair in Epilepsy Genetics.

Frosk, Patrick PhD, MD, FRCPC

Frosk, Patrick PhD, MD, FRCPC Dr. Frosk is an assistant professor, Pediatrics and Child Health, University of Manitoba and a principal investigator at the Child Health Research Institute of Manitoba (CHRIM). His clinical practice focuses on neurogenetics and inborn errors of metabolism. His research interests include novel gene discovery in rare disease, genetic epidemiology of founder populations, and developing diagnostic approaches for genetically heterogeneous 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, Philip 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.

Innes, Micheil D MD

Dr. Innes is a Clinical Geneticist at the Alberta Children's Hospital and a Professor of Medical Genetics and Paediatrics at the Cumming School of Medicine University of Calgary where he is a member of the Alberta Children's Hospital Research Institute. His clinical interests are in neurogenetics and dysmorphology. His academic interests include syndrome delineation, novel gene discovery, clinical translation of novel technologies and the genetics of Canadian founder populations.

Lacaze-Masmonteil, Thierry MD, PhD

Lacaze-Masmonteil, Thierry MD, PhD received his medical degree from the University Paris 5 - René Descartes in 1993 and a PhD in biological sciences at the University Paris 7 - Pierre et Marie Curie in 1995. He completed a fellowship in Neonatology in 1997 and a Master in Epidemiology in 2000. He was appointed professor of Pediatrics at the University Paris 11 in 1997. Thierry moved to Edmonton, Alberta, in 2003 to become the inaugural director of the Women and Children Health Research Institute (WCHRI) in 2006. In 2010, He was recruited as a senior scientist at the Children's Hospital of Eastern Ontario (CHEO) Research Institute and was the scientific director of the Clinical Research Unit at CHEO from 2011 to 2015. Since 2016, Thierry has been the section head of Neonatology at the Cumming School of Medicine, and the regional program director of Neonatology at Alberta Health Services. His areas of study include clinical trials with an emphasis on medications.

Lehman, Anna MA, MD, FRCPC

Dr. Lehman MA, MD, FRCPC is an Associate Professor at the University of British Columbia in the Department of Medical Genetics, where she trained, and she is a practicing clinical geneticist at BC Children’s and Women’s Hospital and Vancouver General Hospital. She is medical co-director of an exome sequencing service and co-lead of a rare disease research group at the BC Children’s Hospital Research Institute. Her main research interest is discovery of novel rare disease-gene associations.

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.

Masson, Jean-Yves PhD

Masson, Jean-Yves PhD 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).

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.

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)

Vandersteen, Anthony MD PhD FRCP (Lond) FRCPC

Vandersteen, Anthony MD PhD FRCP (Lond) FRCPC has been a medical geneticist in Halifax since he and his family emigrated from the UK in 2014. After obtaining a natural sciences degree in Cambridge he completed a PhD in RNA chemistry in London UK, then a postdoc in combinatorial chemistry in the USA. Returning to medical school in the UK, he completed internal medicine residency in the South of England and Clinical Genetics specialist training at Guy’s and Great Ormond Street Hospitals. Dr. Vandersteen has an interest in heritable disorders of connective tissue and emerging drug therapies.

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.

Wozniak, Richard PhD

Wozniak, Richard PhD is a professor in the Department of Cell Biology in the Faculty of Medicine and Dentistry at the University of Alberta. His laboratory combines yeast genetics, cell biology, and biochemistry to study the cell nucleus. Dr. Wozniak’s work has contributed to defining the machinery in cells that controls the movement of proteins into and out of the nucleus and understanding how these factors influence gene expression. Mutations that alter nuclear transport can have catastrophic consequences, including cell death and a host of human diseases including cancer.

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