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i was just getting started at 45
i just became a grandmother
it was a whole new life opened up to me
and it was shut down - real fast
debby came to us
more than fifteen years ago with a very weak heart
this came from a
pretty rare
nonmalignant tumor
it's called pheochromocytoma
my heart went into cardiac arrest i actually died three times and they
brought me back
and then they put me in a medically induced coma
and i was in a coma for two weeks
to actually survive what i went through
was like two percent
if this were found
five or ten years earlier
we wouldn't even be sitting here today because debby would have had that tumor removed before any of the cardiac problems
came to be
i think genomic medicine will be able to make these diagnoses a lot sooner
than they were in her case
jackson laboratory was established in 1929
as a center
for mammalian genetics it was
established at a time when genetics was just a new field
since then we've really expanded and contributed significantly to the
understanding of the genetics
and ultimately with genomics
genomic medicine really is using information
encoded in an individual's d_n_a_
to match treatment options with patients in a very precise way
what we're really moving towards is targeting and
personalizing all the medicine
tailored to the unique genetic makeup of an individual
i think genomic medicine also holds promise for us to understand
earlier diagnostics so using a patient's d_n_a_ makeup
to really better understand their inherent susceptibility to disease
science in this day and age
is
really a group effort
one laboratory by itself rarely will make the major impact
bioscience connecticut is essentially the foundation
for what brought jackson labs here and now
is expanding bioscience connecticut into genomic medicine
the jackson uconn
collaboration for genomic medicine has great strength on both sides
i think that it will shape things here in connecticut and for the region if not
globally about how you can use multi disciplines multiple approaches
ultimately for the goal of how do we use this to improve human health
because that's really what we're here for
we have to know more about diseases if we're going to cure them
and if we can cure them we're going to decrease the health care costs or we have to know
more about diseases to affect people's lifestyles so they can prevent
themselves from having these diseases
i'm here today
for a routine icd pacemaker check-up
the biggest thing when we check defibulators or peacemakers is to make sure
that there's no great variations on how
the defibulator is working so everything kind of stays the same from one
visit to the next and that's how it's been with her
everything is checking out perfectly normal all of her numbers are exactly where they should be
the pacemaker itself
is pretty big
and my daughters say
it's like a badge that you have you survived this you should be proud of it
i think genomics is the way it should be going
i don't want my grandchildren
to end up like this
and if it's such an easy test
and if it can detect so much why not have it