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How does matchmaking help Care4Rare discover new

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rare disease-causing genes?

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Care4Rare is trying to identify families from

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across the world that have a disease that has

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not yet got a name and we do

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this through a platform called the Matchmaker exchange and what

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the Matchmaker exchange does is essentially like

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a game of Go Fish. It asks the world

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“Do you have any families that don't

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yet have a diagnosis?” that perhaps share these

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clinical signs and symptoms as well as changes in

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this specific gene and when you get a match you

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make a connection and we've done that now for

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200 genes that we thought had

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very high likelihood of being implicated in

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a person's rare disease and for 15% of

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these we made connections around the world to bring

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those forward as individual discoveries. Our experience

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shows us that matchmaking is a very important way

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to make sure that we are

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able to find all the families around the world the

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same rare disease.

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And this is really important because rare disease in and

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of itself is rare by its definition and so we

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might not have more than one family in Canada, but certainly around

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the world we can find tens or 20s or even 30 families

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that then have an opportunity to get a diagnosis and

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sometimes even connect with one another and provide

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support for each other.