Finding the cause of rare diseases

The Challenge

Genetic diseases, while often rare, have, in aggregate, an enormous impact on the well-being of Canadian families, affecting the lives of approximately 500,000 children. The majority of genes causing these conditions are still unknown. These parents go through cycles of treatment and cost the health care system an inordinate amount of money considering the percentage of people affected. There is often no cure or any therapeutic treatment because the causes are unknown.

Genomics solution

Dr. Kym Boycott and collaborators used DNA sequencing to determine the causes of rare diseases that were put forward to the consortium by physicians across the country who deal with patients. The determination of the gene causing the diseases will then lead to a screening test for those particular disorders and also potential therapy options should the gene be identified in a well-known cellular pathway that drugs may have been designed for.

77 disorders were identified and four novel therapies were determined from this work. On a broader scale it showed the utility of these new genomic technologies to the clinical and to providing personalized care. While the economic modelling has not been done, the ability to know what gene causes a particular disorder and whether there is any therapy, will reduce the repeat visits to the clinic for the patients. In terms of quality of life, it is clearly of great benefit to the patients to get this information.

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