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Care for Rare projects

Gene Discovery Cohort

Care4Rare’s gene discovery program uses new DNA sequencing technology (whole-exome sequencing) to analyze all of a person’s 22,000 genes in a short period of time and at a reasonable cost. Over 3000 families affected with a rare genetic disease from across Canada and around the world participate in this initiative. So far, we have discovered 85 new disease genes and published over 100 papers in peer-reviewed journals.

Please note that recruitment into the Care4Rare gene discovery cohort is now finished and we are working hard to analyze all currently enrolled participants.

Estimating the Value of Whole Exome Sequencing for Parents of Children with Rare Genetic Diseases

One in 12 Canadians is affected by a rare disease, of which 80% have a significant genetic contribution. Patients with rare genetic diseases often experience lengthy diagnostic work-ups (diagnostic odysseys), which frequently fail to provide a diagnosis and can cost upwards of $10,000. Whole-exome sequencing (WES) is a new DNA sequencing technology which has the ability to rapidly identify certain genetic mutations responsible for rare, single-gene diseases and may be clinically valuable to the rare disease population. Before adopting this new technology into everyday clinical practice, it is important to understand the value of this diagnostic information.

To accomplish this, we are surveying parents of children with rare genetic diseases and aim to measure patient preferences and estimate the value of WES diagnostic information on the lives of Canadian patients and their families.

For more information, or if your child has a rare genetic condition and you are interested in participating in this study, please contact the study coordinator, Karen MacDonald.

Estimating the Cost of Rare Disease

The more than 7,000 single-gene disorders, while individually rare, collectively contribute significantly to national morbidity, mortality and healthcare costs. Moreover, as many as half of these rare disorders are undiagnosed and most are currently untreatable, creating a tremendous burden on the individual, their families and society. Across the globe, patients with rare diseases account for a disproportionate number of hospital admissions and costs.

Care4Rare, in collaboration with the University of Calgary and the Institute for Collaborative and Evaluative Science (ICES), are currently working to determine the costs associated with both diagnosis and management of patients with rare genetic diseases in Ontario. We are currently investigating:

1) How much does it cost the Ontario government to care for a child with a rare disease, compared to unaffected children or those with chronic diseases?
2) Do we see significant differences between the cost of static and degenerative disorders?
3) Can we observe a significant change in cost after a molecular diagnosis is made for rare disease patients?

This study is not currently recruiting.
Re-positioning of FDA-approved drugs for rare disease

In addition to accurate diagnoses, development of effective therapies for rare disease is an obvious goal. There is a significant gap between the large number (~3500) of molecularly characterized rare diseases and the small number (~200) for which there is an available therapy. At present, the number of rare diseases is significantly greater than the number of laboratories available to investigate them. Care4Rare aims to use a generalizable approach repurposing FDA-approved drugs and screening for their effect on expression of disease genes. Ten promising drug-gene interactions, which were identified in the screen, are currently being evaluated in mouse models.

This study is not currently recruiting.
Care4Rare-SOLVE: Harnessing multi-omics to deliver innovative diagnostic care for rare genetic diseases in Canada

There are more than 7,000 rare genetic diseases, affecting some one million Canadians and their families. More than one-third of these diseases remain unsolved. Canadian researchers in Ontario, Alberta and BC are working to identify the genetic cause of unsolved rare diseases and make genomic sequencing available to Canadians for rare disease diagnosis. Their objective is to more than double our ability to diagnose unsolved rare disease, while building the infrastructure and tools needed to improve rare disease diagnosis worldwide.
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