Drs. Stephen Scherer, Peter Szatmari and team are using the $9.9 million LSARP funding to identify the remaining genetic risk factors for autism spectrum disorder. This ground-breaking work will mark Canada’s contribution to an ambitious international initiative that aims to sequence and analyze the genomes of 10,000 people with autism spectrum disorder. With a more complete understanding of the genetic elements of autism, doctors will be able to make earlier diagnoses, provide better, more personalized care to patients and reduce the enormous cost autism imposes on our health care system.
Awarded Projects
Enhancing care for rare genetic diseases
June 5, 2012Drs. Kym Boycott, Alex MacKenzie and team will use powerful new gene sequencing technologies to identify the genes implicated in many of the rare diseases affecting the Canadian population. Besides providing important new understanding into human disease, this $11.7 million LSARP project will yield other benefits, including: avoiding invasive procedures, stopping ineffective treatments, developing earlier and better diagnoses, devising more appropriate treatment, and predicting the chances that one of these rare diseases could be passed on to offspring. Once the disease-causing genes have been identified, researchers will test drugs that are currently on the market to identify those that might be effective against these rare diseases.
Development of a novel macrocycle compound library
June 5, 2011A University of Toronto-based research effort is developing innovative methods around an emerging class of therapeutics called macrocycles. The team has developed a novel and effective process for making linear peptides circular. Utilising an Ontario Genomics’ PBDF investment, as well as support from MaRS Innovation, the team will to further their efforts, including building a compound library and testing for important properties such as cell permeability and stability to capitalize on emerging potential in drug development.
Potential for therapeutics in cyclic peptide scaffolds
June 5, 2011In 2010, Dr. Andrei Yudin and his students at the University of Toronto found that the molecules of cyclic peptides can be readily made using novel chemistry. Funded in part by Ontario Genomics’ SPARK program, the Yudin lab has made an exciting discovery: that not only the stability of the peptides but also the ability to enter human cells is increased when circular molecules are made with their method. The team is now working to capitalize on these molecules’ ability to enter cells to program them to also kill disease-associated proteins found in infected cells–an exciting path towards real therapeutics.
Exploring splicing misregulation in human disease
June 5, 2011The human genome can be thought of as a computer program that controls the generation of biological complexity and the activities within living cells. While the text comprising the genome was revealed 10 years ago when the genome was ‘sequenced’, deciphering the genetic code hidden within the genome has been difficult. Recently, Drs. Frey and Blencowe at the University of Toronto have developed a method that enabled them to identify the instructions comprising a ‘splicing code’ within the genome. This pilot project was successful and led to 1) the development of a $1 million proposal to scale up the approach to fully support medical research, 2) a collaboration between the University of Toronto, Cold Spring Harbor to investigate the causes and therapeutic treatment of spinal muscular atrophy, the leading cause of infant mortality, and 3) the training of graduate students and postdoctoral fellows who are now working to scale up the methodology to support medical research. The exploratory research enabled by this project has opened the door to a new major direction of research in the Canadian genomics community.
MedSavant
June 5, 2011Using the Ontario Genomic’s SPARK award, Dr Budno and Mr Fiume of the University of Toronto have been developing MedSavant, a high-performance software platform for the analysis of DNA data that helps researchers pinpoint the causes of genetic diseases. The platform serves as a repository and search engine for huge volumes of genomic mutations that are being gathered through genome sequencing. It harnesses the information collected from many patients and studies, and provides a flexible interface for organizing data, performing sophisticated analyses, and generating reports.
Automated pronuclear microinjection
June 5, 2011Pronuclear microinjection is a technique for creating transgenic mice, an important tool in genetics/genomics and developmental biology research. Drs. Yu Sun and Zhe Lu at the University of Toronto are developing key technologies to automate pronuclear microinjection capable of 3D orienting individual mouse embryos, demonstrating feasibility of injection via computer mouse clicking.
The Canadian Pediatric Cancer Genome Consortium
July 1, 2010Cancer is the most common cause of non-accidental death in children from infancy to young adulthood. A group of Canadian researchers and clinicians have joined forces to use one of the most powerful gene sequencing technologies ever developed, to probe the genomes of four of the most challenging childhood cancers known. The ultimate aim of this project is to use the newly discovered genetic information about these cancers to gain insight into targets and new therapies that may be developed. This project also provides the opportunity to study the ethical issues that arise in deciding when and how best to provide the results from genetic studies on childhood cancers back to the patients and their families. This multi-disciplinary, cross-Canada national study will redefine the genetic basis of aggressive childhood cancers, and the results will lead to improved survival and reduced long-term consequences for children with cancer.
Finding of Rare Disease Genes in Canada (FORGE Canada)
July 1, 2010Genetic disorders of children are individually rare but collectively frequent, causing medical problems including birth defects, intellectual disability, and organ failure. Most genes that cause these conditions have not yet been found, mainly because gene-discovery studies are difficult to perform when DNA from only a small number of affected children is available. Recently a new technology (called Next Generation Sequencing) has been developed which allows a person’s entire genetic code to be analyzed within a few days at reasonable cost. Through this national collaboration between Canadian doctors and scientists, many genes responsible for genetic disorders that affect children will be able to be rapidly identified.
Nuclear hormone receptor screening system
June 5, 2010InDanio, an early-stage drug discovery and development company, has developed a novel and unique screening system for the complete human nuclear hormone receptor (NR) family. The company uses fluorescent tags attached to copies of human genes in living zebrafish embryos to identify and localize functioning individual NRs. The screening system can be used to both characterize certain receptors as potential targets for drug discovery, and to identify and refine potential new drugs that target NR proteins.