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Health committee  Craig Campbell, an esteemed colleague, has a Canadian neuromuscular disease registry that is run out of Calgary. It is a very impressive disease registry, where you can track safety and do clinical trials. It's a perfect model for how things should be done in a perfect world. I

October 25th, 2018Committee meeting

Dr. Alex MacKenzie

Health committee  It's a big question, and Mike spends a lot of time looking at this. With regard to the genetic sequence for sure...and on the actual description of the disease, there's something called the HPO, the human phenotype language that Mike uses. Do you have anything to add?

October 25th, 2018Committee meeting

Dr. Alex MacKenzie

Health committee  We are very eager to.

October 25th, 2018Committee meeting

Dr. Alex MacKenzie

Health committee  I think I was just twitching, perhaps. I don't know.

October 25th, 2018Committee meeting

Dr. Alex MacKenzie

Health committee  I do want to say that the calibre of questions was very impressive. There was real thought brought to bear.

October 25th, 2018Committee meeting

Dr. Alex MacKenzie

Health committee  Often, we doctors who identify it very generously name it after ourselves. It's part of our altruism.

October 25th, 2018Committee meeting

Dr. Alex MacKenzie

Health committee  We also use it for therapeutic configurations for rare diseases as well. We identify potential therapies without actually going to the benchtop and test tubes. We're just doing a sort of computational analysis.

October 25th, 2018Committee meeting

Dr. Alex MacKenzie

Health committee  Big trials aren't possible. You need to go to even one trial sometimes because it is so rare. You just need to be very fastidious about the biomarkers and that the questions you're asking are doable. It's a new way of doing clinical trials, no question.

October 25th, 2018Committee meeting

Dr. Alex MacKenzie

October 25th, 2018Committee meeting

Dr. Alex MacKenzie

Health committee  How can they support it? Marc LePage is here as an observer, and perhaps he could elaborate later on. Fundamentally—not to go into some inside baseball talk here—it's in the budget this go-round, I think, for part of the global Genome Canada ask. That's how it's going to be remu

October 25th, 2018Committee meeting

Dr. Alex MacKenzie

Health committee  Michael, I'll tackle it first. Basically, I think clinically introduced DNA sequencing will identify these individuals before they manifest their symptoms. That's the short answer. We have newborn screening in our institution where we look at 150,000 babies a year. For Ontario w

October 25th, 2018Committee meeting

Dr. Alex MacKenzie

Health committee  It's on the record.

October 25th, 2018Committee meeting

Dr. Alex MacKenzie

Health committee  That's roughly 2% to 3% up. It's just based upon our personal observation at the CHEO genetics clinic and extrapolations therefrom. If one drills down in the literature—and perhaps Joel might have a comment, because both he and I are saying that one in 12 is perhaps a bit inflat

October 25th, 2018Committee meeting

Dr. Alex MacKenzie

Health committee  I would agree, and I think if we go ahead with the Genome Canada project to do the 30,000 rare disease genomes, that will be a step in the right direction, as would be other general genomic sequencing projects.

October 25th, 2018Committee meeting

Dr. Alex MacKenzie

Health committee  Yes, and that's it. I just want to say that—

October 25th, 2018Committee meeting

Dr. Alex MacKenzie