Diagnosing Rare Genetic Diseases in Children

There are more than 7,000 rare genetic diseases, many of which haven’t been identified yet. For more than one million Canadians and their families, these diseases can have a devastating impact.

Care4Rare will more than double our ability to diagnose unsolved rare disease and bring these capabilities to hospitals across Ontario and Canada, while building the infrastructure and tools for worldwide data sharing.

 

Dr. Kym Boycott, a Senior Scientist and Clinical Geneticist at CHEO, talks about the impact of rare disease research by diagnosing rare disease genes.

Led by Dr. Kym Boycott at the Children’s Hospital of Eastern Ontario Research Institute in Ottawa, Care4Rare is a pan-Canadian collaborative team of clinicians, bioinformaticians, and researchers focused on improving the care of people living with rare disease in Canada and around the world. Building on the outcomes of two earlier projects supported by Ontario Genomics (FORGE Canada 2010 and Enhanced Care for Rare Diseases 2012), this initiative includes 21 academic sites across the country and is recognized internationally as a pioneer in the field of genomics and personalized medicine.

Care4Rare’s work is speeding up the diagnostic process, preventing years of diagnostic testing and visits to multiple specialists that patients and their families would otherwise have to endure. Providing a timely diagnosis improves the care and wellbeing of patients and their families and reduces unnecessary healthcare spending.

Quick facts about Care4Rare’s innovations:
  • Care4Rare is increasing the connectivity between clinicians and scientists to translate genetic findings into understanding disease mechanisms and finding new treatments for patients with rare diseases;
  • Individuals with rare diseases and their families are now connected with others around the globe through RareConnect – an online platform that provides a supportive and safe environment to ask questions, share experience, and interact with others with a similar condition. There are currently over 31, 000 members and over 150 disease – specific communities, including a community for individuals without a diagnosis;
  • The time it takes to diagnose rare disease can be reduced to weeks versus years;
  • Treatments can be as straightforward as supplementing a single amino acid that is readily available and inexpensive.

For more information, please visit http://care4rare.ca/.


All Awarded Projects

Renewable Products from Corn Fiber

Corn is one of the top three most important crops in Ontario, both in terms of land use and revenue. It is used to produce animal feed as well as ethanol and other bioproducts. IGPC Ethanol, one of the largest agricultural co-operatives in Ontario, supports farmers and promotes a clean environment by using locally grown corn to produce renewable fuel.

Located in Aylmer, Ontario, IGPC has grown to become one of the largest producers of renewable fuel in Canada. The company has partnered with a research team led by the University of Toronto to create enzyme systems that transform the recovered corn fiber by-product into high-value, sustainable products for use in food and a wide range of bio-based materials. By combining expertise in functional genomics, industrial biotechnology and bioprocess deployment, this project will create new economic opportunities for Ontario’s rural communities.


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Real-time Water Analysis for the Mining Sector

FREDsense is a synthetic biology company developing novel tools for real-time water quality analysis. Their lead product – the Field Ready Electrochemical Detector (FRED) – consists of a genetically engineered bacterium tuned to sense heavy metals and other contaminants for the mining sector. Real-time water chemistry analysis is vital to managing utility and mine processes, but traditional laboratory analysis can take days, delaying decisions being made on-site and increasing costs.

The FredSense system is portable, autonomous, and connected, providing users with continuous water quality measurements. FredSense was awarded first prize in Ontario Genomics’ inaugural Canada SynBio Pitch Competition to expand capabilities to additional heavy metals like lead. The tunability and specificity of the sensor technology has significant potential to help Ontario companies in the mining sector reduce costs to meet their regulatory requirements.


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Introducing Cold Tolerance in Hazelnuts

The hazelnut, currently considered a minor crop in Ontario, has gained tremendous interest due to the presence of guaranteed market demand and a predetermined buyer. Ontario-based Ferrero Canada, the manufacturer of the hazelnut-containing products Nutella and Ferrero Rocher, is the third-largest confectionary group in the world, requiring approximately 40% of the current global hazelnut supply. These hazelnuts must meet specific quality standards to retain aroma, taste and consistency during processing.

For many years, Ferrero Canada has attempted to source hazelnuts in North America. Unfortunately, the Ontario climate has hindered the ability of Ferrero to expand domestic cultivation. In partnership with the University of Guelph, this industry-academic partnership project will apply genomics to improve cold tolerance of hazelnuts to enhance the productivity, sustainability and profitability of this important crop for Ontario’s agri-food sector.


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Genomics Technology Supporting Craft Brewing Industry

The beer sector contributes $13.6 billion to the Canadian GDP and has an economic impact of more than three times that of wine and spirits combined. The contribution of craft beer to the beer sector is growing and is predicted to triple by 2027. Nonetheless, local craft beer competes with many imported beers. This, along with the ever-increasing consumer demand for product diversity, drives the industry to more innovative, increase quality and efficiency while decreasing costs.

In this industry-academic partnership, Escarpment Laboratories and the University of Guelph will determine the genetic composition of 40 commonly used and novel beer yeast strains to gain insight into its capacity to complete fermentations efficiently and to produce certain flavour components. It will also determine the optimal fermentation temperature and yeast nutrient needs and correlate the production procedures with specific flavour compounds. This will allow brewers to be more consistent and predictable and drive both innovation and profitability in Ontario’s craft brewing sector.


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Early Non-Invasive Prenatal Diagnosis

Prenatal diagnosis by amniocentesis or chorionic villi sampling carries a risk of miscarriage, is costly and can only be done by specialists in a small number of centers. Therefore, these diagnostic tests are usually only offered after an earlier prenatal screening test result or fetal ultrasound shows an increased risk for chromosomal abnormality, and results are often not known until 17 weeks of gestation.

Experts at Mount Sinai Hospital have developed a safe, non-invasive and less expensive test, easily done by a variety of health care professionals, to detect fetal chromosome abnormalities and single-gene disorders. Available to all pregnant people, this technique is similar to a PAP smear and can be performed as early as the sixth week of pregnancy. With no other test like this available, it will help deliver better prenatal care and compete in the multi-million-dollar global market.

The technique will be commercialized through a start-up company that will attract investment and create jobs in Ontario’s growing healthcare and biotech sectors.


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Off-the-Shelf Cell Therapy for Brain Cancers

There is currently no successful treatment for patients with recurrent/treatment-resistant brain cancers, specifically glioblastoma (GBM). Partnering with the University of Toronto and collaborators at McMaster University, Empirica has used genomic screening technology to identify CD133 as a promising target for effective treatment using Chimeric Antigen Receptor (CAR)-T cell therapy. The overall goal of the project is to design, genetically engineer and validate next-generation CD133 CAR-T cells that can be manufactured “off-the-shelf,” and thus are less costly and less susceptible to immune suppression.

As one of the most aggressive cancer types, with inevitable recurrence, the global GBM market was US $416.8 million in 2015 and is forecasted to reach US $1.15 billion by 2024 as the global population increases. In Canada, costs of cancer care have been steadily on the rise, and this project aims to provide more effective and universal treatments for recurrent GBM that can alleviate this economic burden and provide patients with improved treatment options.


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Environmental Remediation of Contaminated Soil

As a result of crude oil extraction, transportation and refining processes, there are thousands of sites in Canada contaminated with benzene, toluene, ethylbenzene, and xylenes (collectively known as BTEX). This negatively impacts soil and groundwater resources. In Canada and around the world, remediation of contaminated sites is difficult and costly. When possible, affected soil can be dug up and treated or disposed of offsite.

A collaborative project between SiREM, a Guelph-based national leader in environmental remediation, Imperial Oil and the University of Toronto aims to use genomically characterized strains of bacteria that break down BTEX compounds underground without the need to dig up contaminated soil. If successful, solutions developed through this project will significantly accelerate the rate of biodegradation and lead to more efficient and widespread cleanup of contaminated sites at a lower cost.


All Awarded Projects

Diversifying Ontario’s Forestry Sector with New High-Value Materials

Canada’s forestry sector contributes significantly to jobs and GDP, but the industry is being challenged by the digitization of print and global market pressures.

A key opportunity identified by the sector and the Ontario Government’s recently published forestry sector strategy is to develop new and innovative wood-based products. By diversifying production away from low-value commodity products like paper, there is an opportunity to transform pulp and paper mills into biomanufacturing plants that produce high-value materials.

To help accomplish this, Ontario Genomics is supporting Fortress Advanced Bioproducts, a company valorizing pulp and paper mill side streams into xylitol, a low-calorie sweetener. Fortress is partnering with the University of Toronto to optimize a key step in the xylitol production process that reduces operational costs and improves competitiveness in the market.


All Awarded Projects

Environmental DNA Toolkit to Detect and Identify Canadian Freshwater Fish

Freshwater fish contribute to Canada’s economy both directly and indirectly and are critical for the preservation of freshwater resources and food security. Thriving freshwater fish resources are the lifeblood of many rural, northern, and Indigenous communities and are central to the social and cultural lives of millions of Canadians. Yet over 25% of Canadian freshwater fish stocks are under threat.

The logistical difficulties of monitoring fish in Canada’s 2+ million lakes and countless rivers are compounded by the limitations of conventional sampling methods, which provide only a snapshot. This project will use genomic approaches to develop a Fish Survey Toolkit based on environmental DNA from water samples and a Fish Health Toolkit that will provide quantitative assessments of the health of fish and the stressors they face.

Collectively, these toolkits will enable a complete and accurate assessment of the status of Canada’s freshwater fish resources, save millions of dollars in fish survey costs, and result in additional indirect savings through more effective and directed management actions. Furthermore, and most importantly, the project will ensure the sustainability of Canada’s freshwater fish resources for future generations.

“The GEN-FISH network consists of 24 committed and dedicated scientists who care passionately about the freshwater fishes of Canada and around the world. The GEN-FISH funding will ensure the development of novel, ground-breaking genomic technology to help conserve freshwater fish for generations to come.”

— Dr. Daniel Heath, Professor, University of Windsor


All Awarded Projects