Professor, Department of Paediatrics and Child Health
Professor, Department of Biochemistry and Medical Genetics
I have expertise in the delineation and/or reporting of unique rare genetic disorders in Manitoba, and the phenotyping of teratogenic and genetic human diseases. Several peer review reports of discovery have been published delineating several rare disorders, and in most cases, the discovery of the unique gene mutations causative of the disorder. These include MOTA (1995, 2006, 2009, 2007, 2011), CODAS (1995 and 2014), SAMS (1997 and 2013), XLMR Chudley-Lowry syndrome (1988, 2005), XLMR with immune deficiency (1999 paper), Chudley-McCullogh syndrome (1996 and 2012), Joubert-like syndrome (3 genetic disorders with unique genes - 2011, 2013), Infantile Muscular Dystrophy in Canadian Aboriginals (2011), MOTA syndrome (2009) to name a few. I have been active in research and clinical diagnostic activities at the local, provincial, national and international level in Fetal Alcohol Syndrome. I co-chaired a committee that developed the national guidelines for FASD diagnosis (CMAJ, 2005) that have been established as the model approach to diagnosis by the World Health Organization. I served on the FASD National Advisory Committee for Health Canada from 2002-2006. I sit on a national steering committee to develop screening guidelines for FASD in Canada, and in July 2011 I was appointed a team leader in the FASD stream of the NeuroDevNet with the National Centres of Excellence. In addition, studies of specific candidate genes of interest associated with a risk for FASD using methylation analyses and assessing patterns of inactivation/activation of these genes have revealed unique findings supporting the role of changes in the epigenome in FASD. In Manitoba, CIIFAC (Canada-Israel fetal alcohol Consortium) a FASD research group (CIIFAC) has been successful in securing funds to explore the genetic and epigenetic factors contributing to FASD. I would continue to participate in these studies with Manitoba, national and international partners to further establish the role of the environment, the epigenome and other genetics risk factors contributing to FASD. The ultimate goal is to reduce the prevalence of FASD through intervention and enhancement of diagnosis with the identification of biomarkers that we are confident will be identified through these research efforts.
FE229 Community Services Building