Bringing together world-class researchers to share knowledge and move research into action.

Dr. Barbara Triggs-Raine is Professor and Head of the Department of Biochemistry & Medical Genetics at the University of Manitoba (UM), and an Investigator in the Children’s Hospital Research Institute of Manitoba (CHRIM). As a graduate student studying bacterial genetics, she took a Human Genetics course at UM that changed everything. Following her newfound passion for Human Genetics she took up postdoctoral training at the Hospital for Sick Children in Toronto and then at Montreal Childrens’ Hospital Research Institute where she ventured into the genetics of unique populations with studies of the molecular basis of Tay-Sachs Disease.

When Barb returned to UM in 1991 she continued her work on Tay-Sachs and began collaborating with several local geneticists to uncover the molecular basis of rare genetic diseases in Manitoba’s unique populations. Despite efforts to move on, her studies kept linking back to Tay-Sachs disease and now, 35 years later, she is collaborating with Dr. Brian Mark (Dean of Science, University of Manitoba) and M6P Therapeutics to develop a gene therapy for Tay-Sachs Disease.

Barb has a long-standing relationship with CHRIM, having once had a lab on the 5 ^th floor JBRC and served as a member of the CHRIM Board as well as the sixth floor development committee. Eventually Barb served as Interim Director of Space/Facilities of CHRIM where she worked in close partnership with Nichola Wigle, CEO, to develop space on JBRC 5/6. She has many strong connections and memories of CHRIM established during that time.

Unique populations in Manitoba and around the world have frequencies of disease (both increased and decreased) that differ from the general population. Studies of the genetic variants and/or diseases that are specific to these populations are critical to allow access to a diagnosis, the potential for screening, and the basis for development of therapies.

This session will explore how dramatic advances in technology have fueled the discovery of genes, gene variants and gene therapies in unique populations.  It will include a description of how PCR advanced molecular testing for Tay-Sachs disease in the Ashkenazi Jewish population and the impact of rapid screening.  This will be followed by a discussion of how sequencing advances led to the discovery of rare disease genes in Manitoba’s unique populations and some of the impacts of these discoveries. Finally, returning to Tay-Sachs Disease, the outcomes of work toward a potential gene therapy for Tay-Sachs and related disorders will be presented.

At the end of this session, listeners will

1. Recognize how advances in gene technologies allowed for identification of rare disease genes and variants.
2. Describe the challenges to developing therapies for Tay-Sachs Disease and related disorders.

Dr. Kelly Russell is an Associate Professor in the Department of Pediatrics and Child Health. She completed her MSc in Epidemiology at the University of Alberta, her PhD in Epidemiology at the University of Calgary, and a post-doctoral fellowship in sport-related traumatic brain injuries at St. Michael’s Hospital in Toronto. 

Since arriving at University of Manitoba in 2012, she has developed a research program in pediatric injury, with an interest in pediatric sport-related concussion. This includes understanding the risk factors for prolonged recovery, interventions and multi-disciplinary management to improve recovery, mental health consequences of concussion, and access to timely care through telemedicine to improve outcomes among those living in Northern communities. She is also studying the effects of growing up in households where intimate partner violence occurs and improving the management of traumatic brain injury among survivors of intimate partner violence. She co-leads the Children’s Hospital Research Institute of Manitoba’s Excellence in Neurodevelopment and Rehabilitation Research in Child Health (ENRRICH) Theme.

She currently holds the Robert Wallace Cameron Chair in Evidence Based Medicine. Her research is funded by the Canadian Institutes of Health Research, Research Manitoba, and the National Football League Scientific Advisory Board.