SickKids-led research projects named 2015 disruptors by Genome Canada

Four projects led by researchers from The Hospital for Sick Children (SickKids) were awarded over $991,000 in total funding by Genome Canada today as part of the 2015 Disruptive Innovation in Genomics competition.

The competition is part of Genome Canada’s mandate to support innovation in the field of genomics. Disruptive innovations are defined as either a new genomics technology or the application of an existing technology from another field to the field of genomics.

The SickKids projects that received funding include:

RNA-seq in patient derived ex-vivo models: genetic diagnostics beyond whole exomes - $250,000

The project aims to develop a new diagnostic methodology using ex vivo disease models created at SickKids in place of tissue biopsies to perform gene mutation discovery. The methodology combines recent advances in cell biology, genomics and bioinformatics.

Dr. James Dowling, Staff Physician, Neurology, SickKids; Senior Scientist, Genetics & Genome Biology Program, SickKids Research Institute; Assistant Professor, Molecular Genetics, University of Toronto

Dr. Michael Brudno, Director, Centre for Computational Medicine, SickKids; Senior Scientist, Genetics & Genome Biology Program, Research Institute, SickKids; Associate Professor, Department of Computer Science, University of Toronto

Economical high throughput de novo whole genome assembly - $241,467  

The project team will develop a new “mate-pair” sequencing technology to overcome the financial and logistical barriers of de novo sequencing (when an individual’s genome is constructed from his or her own data alone). The goal of the technology is to enable de novo sequencing to be carried out in a single simple step.

Dr. Stephen Scherer, Director, The Centre for Applied Genomics (TCAG), SickKids; Senior Scientist, Genetics & Genome Biology Program, SickKids Research Institute; Professor, Department of Molecular Genetics and Director, McLaughlin Centre, University of Toronto

Dr. Si Lok, Lead, Technology Development, The Centre for Applied Genomics (TCAG), SickKids

Functional Genomics in Human Cells for Drivers of Lethal Metastatic Human Cancers - $250,000

The project aims to develop and deploy unique tools that help with the discovery of drivers of cancer metastasis. The project will help to improve survival rates of Canadians diagnosed with deadly human cancers.

Dr. Michael Taylor, Neurosurgeon, Neurology, SickKids; Principle Investigator, Arthur and Sonia Labatt Brain Tumour Research Centre, SickKids; Senior Scientist, Developmental & Stem Cell Biology Program, SickKids Research Institute; Associate Professor, Departments of Surgery and Laboratory Medicine and Pathobiology, University of Toronto

Dr. Rama Khokha, Interim Research Director, Research Institute, Princess Margaret Cancer Centre; Senior Scientist, Princess Margaret Cancer Centre; Professor, Department of Medical Biophysics, University of Toronto

SANGRE-seq (systematic analysis of blood gene regulation by sequencing – Bringing RNA-seq to clinical diagnostics - $249,934

The project team will to create an RNA-based clinical test called SANGRE that will allow for RNA expression to be used as a routine and affordable test that can better diagnose disease.

Dr. Michael Wilson, Scientist, Genetics & Genome Biology Program SickKids Research Institute; Assistant Professor, Molecular Genetics, University of Toronto; Canada Research Chair, Comparative Genomics

Dr. Adam Shlien, Associate Director, Translation Genetics, Department of Paediatric Laboratory Medicine, SickKids; and Scientist, Genetics & Genome Biology Program, SickKids Research Institute

All four projects are helping to advance genomics research innovation and ultimately improve the health of patients across Canada.