Science – Genetics – Genome – Research



There are 4,000 known rare diseases in the world. Only 250 have known treatments or cures. How can science move faster to develop much-needed treatments and cures?

I may not have paid as much attention to this question and the possible answer 5 years ago. Now it is the question that sits in my mind and demands my attention day-to-day, moment to moment. Can we find a cure for Kate’s rare form of mitochondrial disease? What would it take to find a cure? Is there an orphan drug out there somewhere that would fix/correct the breakdown in the protein synthesis chain of the one gene in her body affecting her mitochondria from doing their job of creating energy so that she can live?

This recent TED TAlk from Dr.Francis Collins, Director of the National Institute of Health (NIH) gives some insight into how the human genome and recent advances in science may unlock the key to treatments for rare disease. What is needed now is the will.

Will = money, resources, engaged and motivated scientists, motivated pharmaceutical companies, flexible government policy.


In Canada, our recent federal budget just announced $150 million dollars in funding for projects in genomics and personalized health, a Genome Canada-Canadian Institutes of Health Research (CIHR) partnership.

Of particular interest to our family is that Dr.Kim Boycott, a CHEO neuro-geneticist, will lead the enhanced Care for Rare genetic diseases in Canada program. This program is a continuation of FORGE, the first comprehensive genetics research program to identify rare/novel disease in children across Canada. Kate was part of the FORGE program, and it is a credit to the research of Dr.Boycott and her colleagues, as well as our metabolics doctor (Dr.C) that Kate’s disease was finally identified.

Genetics, a few months of my Grade 12 science class and first year biology program at University. Who knew that the science of genes and their variations would play such an important role in our life.







  1. We were thrilled to see Dr Boycott and her team getting funding. She is wonderful, and always reassuring when we see her.


    1. I think Dr.Boycott, Dr.McKenzie, Dr.Holcik, Dr.Chakraborty…and others, are changing lives with the incredible science they have access to. We were told Kate might never have a diagnosis and that we should accept that fact. I never did, and I am glad others didn’t as well.


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