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/system scientist communities of yeast, C.elegans (worm), zebrafish, Drosophila (‘fruit fly’), mouse, and human cell models (e.g., human pluripotent stem cells and human organoids). Network administration is provided by the Maternal Infant Child & Youth Research Network (MICYRN) which joins 28 specialist networks and 21 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]
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 Campeau), the head of the Network Administrative-Coordinating Centre (Lacaze), and co-Chair of the Scientific Advisory Committee (Hicks).
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 & Geoffrey Hicks
Members: Berman, Boycott, Campeau, Wozniak, Rankin, Lipshitz, Shoubridge, Nunes Vasconcelos
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: Balci, Frosk, Dyment, Innes, Gibson
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.
Chair: Paul Pavlidis
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 the CEO/Scientific Director and Vice President of Research at the CHEO Research Institute and Professor in the Department of Pediatrics at the University of Ottawa. 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.
Balci, Tugce MD, FRCPC, FCCMGC
Balci, Tugce MD, FRCPC, FCCMG is a Medical Geneticist and Clinician Researcher at London Health Sciences Centre in London, ON and an assistant professor at Western University. Dr. Balci completed her medical degree at Ankara University and her Medical Genetics residency training at Baskent University in Ankara, Turkey. She was a postdoctoral fellow in the Berman Zebrafish Laboratory (then in Halifax, NS), where she worked on zebrafish models of rare human hematopoietic diseases. Dr. Balci completed her Canadian Medical Genetics residency training at the University of Ottawa in 2018. She now serves as the London site lead for Care4Rare SOLVE and as the clinical lead of the newly launched EpiSignCAN project. She is building a research program (with a special interest in epilepsy) focused on finding new disease genes and creating zebrafish models of human disease.
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.
Gibson, William MD, PhD
Dr. Gibson MD, PhD is a Professor of Medical Genetics at the University of British Columbia and clinical geneticist at British Columbia Children's Hospital. Dr. Gibson's research focuses on disorders of the PRC2 and CBP/Ep300 histone-modifying complexes. Clinically, he sees patients with rare disorders of somatic and generalized overgrowth.
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, A Micheil 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.
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.
Nunes Vasconcelos, Sara S., PhD
Nunes Vasconcelos, Sara S. PhD Dr. Nunes Vasconcelos is a Senior Scientist at the University Health Network in the Toronto General Hospital Research Institute and the John Kiston McIvor Endowed Chair in Diabetes Research. She holds an Associate Professor appointment at the Institute of Biomedical Engineering and a cross-appointment at the Department of Laboratory Medicine & Pathobiology at the University of Toronto. Her lab’s research is focused on cell-based regenerative medicine and in developing and using in vitro disease models of heart muscle and blood vessels from human cells (organs-on-a-chip) to study organ function, cell-cell crosstalk, and disease pathophysiology.
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.
Rankin, Catharine PhD
Rankin, Catharine is a Professor in the Department of Psychology at the University of British Columbia. She is internationally recognized for her work using a simple invertebrate model system to address fundamental psychological questions about the effects of experience on the nervous system and behavior. She investigates the effects of experience at behavioral, neural system and genetic levels. She was the first to show that the nematode Caenorhabditis elegans is capable of learning and memory, and has uncovered several genes that play important roles in learning and memory. Her research is also beginning to shed light on the cellular mechanisms of habituation, the simplest form of learning. She and her students are currently trying to understand the mechanisms by which mutations in the human presenilin lead neurons to die, and she is involved in several projects functionalizing genes that have been associated with Autism Spectrum Disorder.
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)
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.