How does matchmaking help Care4Rare discover new
rare disease-causing genes?
Care4Rare is trying to identify families from
across the world that have a disease that has
not yet got a name and we do
this through a platform called the Matchmaker exchange and what
the Matchmaker exchange does is essentially like
a game of Go Fish. It asks the world
“Do you have any families that don't
yet have a diagnosis?” that perhaps share these
clinical signs and symptoms as well as changes in
this specific gene and when you get a match you
make a connection and we've done that now for
200 genes that we thought had
very high likelihood of being implicated in
a person's rare disease and for 15% of
these we made connections around the world to bring
those forward as individual discoveries. Our experience
shows us that matchmaking is a very important way
to make sure that we are
able to find all the families around the world the
same rare disease.
And this is really important because rare disease in and
of itself is rare by its definition and so we
might not have more than one family in Canada, but certainly around
the world we can find tens or 20s or even 30 families
that then have an opportunity to get a diagnosis and
sometimes even connect with one another and provide
support for each other.