Genome Canada supporting UBC researchers leading projects tackling genetic diseases in critically ill newborns, and hereditary cancers

A pair of late-stage Genome British Columbia (Genome BC) research and development projects tackling major public health challenges through genomics are receiving federal support through Genome Canada.

RapidOmics 2.0: Long-read genomic sequencing for urgent genetic disease diagnosis, a project from the University of British Columbia (UBC) and the Provincial Health Services Authority will assess the effectiveness of a new type of genome sequencing for screening genetic diseases in critically ill newborns. Early, accurate diagnosis can profoundly influence clinical management and have lifelong positive impacts for children affected by these diseases. 
Project Leaders: Jan Friedman (Medical Genetics), Craig Ivany (Provincial Health Services Authority and adjunct professor in Pathoogy and Laboratory Medicine) 

Parent-of-Origin Aware genomic analysis, a project from UBC and BC Cancer, will evaluate the ability of a new technology to identify which side of a family genetic variants for hereditary cancers come from. Around 300,000 Canadians are at high risk for developing hereditary cancers and may not know it. Identifying the familial source of a patient’s inherited risk for disease can improve follow-up screening of other family members, thereby increasing the chances of preventing or catching cancer early on.
Project Leaders: Steven Jones and Peter Lansdorp (Medical Genetics), Kasmintan Schrader (BC Cancer / Medical Genetics) 

These two Genome BC-backed projects were among 13 projects announced by the Honourable François-Philippe Champagne, the federal Minister of Innovation, Science and Industry, on April 18th