one day everything in your life will be
personalized right now if you go to get
a haircut your barber or hairstylist
knows exactly how you want your hair
styled if you go to your favorite
restaurant and you order a steak
medium-rare you know that it’ll come out
just pink in the middle and if you like
me and you’ve ever gone online just one
time and search for unicorns you know
that Google knows that forever and ads
will be targeted to you
however medicine doesn’t yet work that
way in terms of the way the
pharmaceutical companies develop new
drugs or therapies they’re developed for
groups of people based on their symptoms
or based on what they express is being
wrong with them
but that’ll change as we go forward and
I want to walk through today a
conversation about neurology and about
genetics and a path toward finding a
better and more personalized approach we
all know what it feels like to be unwell
to have a headache maybe a stomachache
even some dizziness
some nausea things don’t feel right and
so when you’re experiencing this you
have a few different options of ways to
cope first one is you may try to ignore
it
just go on with your day hope it goes
away or you feel better another option
could be to call a friend maybe somebody
that works in the healthcare field or
did you eat what I ate last night and
are you selling the same thing and a
third thing you might do is go onto the
internet and look for other solutions or
other options of ways to try to get
better or solve the problem yourself but
in many cases if it’s something real or
something that is going to be an
extended life-altering neurological
condition you’re going to need to go and
see a healthcare expert so the next step
would be to go and see your doctor your
doctor will ask you questions about what
you’re feeling what you’re experiencing
and most often they’ll then ask you to
have some tests on
so between all of those different inputs
the symptoms that you report your
physicians observations and those test
results you will then be classified as
having a condition you are condition X
that is your label that is your
designation and that is how you are seen
and treated however the way that I think
things will change in the future and
they’re starting to now is that
individuals will instead of being
analyzed and described by their symptoms
they’ll be diagnosed by their genetics
so instead of treating someone’s
symptoms we’ll actually treat the
underlying person let’s take an example
this is a real life example this is a
young girl named Emma
Emma’s lived her entire life with
seizures she’s also had muscle loss and
been wheelchair-bound
based on a rare neurological disease
Emma tried many drugs none of them
worked to control her seizures or
reverse the experiences she’s having
it’s very hard on her family hard on
those around her all her loved ones and
we all want someone like Emma or someone
that we know to do better so in this
kind of a situation drugs that were made
for the masses aren’t going to
necessarily be known to how they would
help Emma the way that we can get to
this new future or this new state of
understanding precision medicine in
neurology is by taking three steps the
first one is to do sequencing and
understand what’s happening in someone’s
underlying genetics in their genome the
second one is to then build a replica
build a model of what somebody has in a
laboratory setting and the third one is
to then take drugs that are available or
design new drugs that could reverse the
activity of what is seen in that model
system and I’m gonna walk through each
of those in a little more detail now the
class of genetic sequencing has come
down tremendously it used to cost more
than a billion dollars to do the first
genome now it’s in the single-digit
thousands in terms of time
it used to take more than a decade to do
the first genome that can also now
happen in less than a week and in terms
of knowledge base by studying now tens
of thousands of people’s genetic
information there are large databases
built because every person has genetic
abnormalities but it’s important to know
which ones actually cause disease to be
able to treat an individual you have to
know what the root causes and genetics
helps you get there in the case of Emma
after work was done on her genetic
evaluation it was found that one
singular mutation and her entire genome
was likely what’s called pathogenic or
causal and causing her entire underlying
rare neurological disease so once this
was thought to be the cause that is part
of or the end of step one so here I’m
gonna try to break down models into two
general categories the first ones are
cells so those are just individual cells
those can come from humans those can
come from frogs they can come from many
different model systems but those cells
can be evaluated in a laboratory to have
the exact mutation that Emma or somebody
else has been shown to have on their
sequencing report insert it into those
cells another option are animal models
antal models are great because they’re a
living system not just a cell however
you can only test one drug at a time in
an animal model so the cells let you
test many at a time that high-throughput
system is much more readily helpful to
try to find a drug when you’re testing
many today’s conversation we’ll focus on
the cellular models in terms of this
example so in the case of Emma again
after that mutation was identified as
being causal of the model was built in
cells in a laboratory with the exact
mutation that Emma has and I’m a
situation you have the evaluation here
where there is the wild-type on the
left-hand side and the wild-type is what
anybody would have Emma is on the right
in red so she had an excitability or an
over-excitement of her cells as an
output and those cells represent an
exact understanding
this is likely the causal mutation the
reason that she’s living with her rare
neurological disease and the next step
researchers are going to go and evaluate
actual drugs the way this happens is
starting with a set of Wells so if
thinking about the cellular model each
of these wells represents a small
environment that has Emma’s exact
mutation in it and these are plated out
over 1,300 times to try to find drugs
that could work today repurposed or
generic drugs that are available on the
market but not indicated for seizures
are not indicated for the muscle loss
that she’s been experiencing these drugs
are then taken and placed in each of the
1300 different Wells the really good
thing about doing this kind of research
is that it’s come down and cost over
time meaning that these high-throughput
machines contesta thousands and
thousands of drugs in the period of a
day however the cause is still not
accessible for the masses of people who
need this kind of a service also by
using repurposed drugs or generic drugs
that are on the market a physician knows
the exact side-effects of each and can
make a treatment decision that they
think can help a patient and the third
thing is that these drugs are generic so
they’re available today at the pharmacy
and they’re very low in cost so in the
case of EMA what was wonderful in this
example is that after doing all this
research paroxetine better known as
paxil was found to be a hit in the model
system it reduced that excitability the
physician then read the report took
paxil gave it to Emma she slept through
the night for the first night of her
entire life her first night on paxil she
took her first swim class two weeks
later and she had no seizures on paxil
over the next 14 months so these
examples are already starting to be real
but they’re singular examples in the
future where we want to go is to make
sure that people like Emma or your loved
ones don’t have to go through drug after
drug after drug that were designed for
the masses
and not specifically for them in the
future the way that will do this work is
that individuals will be sequenced the
model system is built and drugs are
tested and then positions have new
options to make an impact today and I
can’t wait until we get there thank you
[Applause] [Music]
personalized right now if you go to get
a haircut your barber or hairstylist
knows exactly how you want your hair
styled if you go to your favorite
restaurant and you order a steak
medium-rare you know that it’ll come out
just pink in the middle and if you like
me and you’ve ever gone online just one
time and search for unicorns you know
that Google knows that forever and ads
will be targeted to you
however medicine doesn’t yet work that
way in terms of the way the
pharmaceutical companies develop new
drugs or therapies they’re developed for
groups of people based on their symptoms
or based on what they express is being
wrong with them
but that’ll change as we go forward and
I want to walk through today a
conversation about neurology and about
genetics and a path toward finding a
better and more personalized approach we
all know what it feels like to be unwell
to have a headache maybe a stomachache
even some dizziness
some nausea things don’t feel right and
so when you’re experiencing this you
have a few different options of ways to
cope first one is you may try to ignore
it
just go on with your day hope it goes
away or you feel better another option
could be to call a friend maybe somebody
that works in the healthcare field or
did you eat what I ate last night and
are you selling the same thing and a
third thing you might do is go onto the
internet and look for other solutions or
other options of ways to try to get
better or solve the problem yourself but
in many cases if it’s something real or
something that is going to be an
extended life-altering neurological
condition you’re going to need to go and
see a healthcare expert so the next step
would be to go and see your doctor your
doctor will ask you questions about what
you’re feeling what you’re experiencing
and most often they’ll then ask you to
have some tests on
so between all of those different inputs
the symptoms that you report your
physicians observations and those test
results you will then be classified as
having a condition you are condition X
that is your label that is your
designation and that is how you are seen
and treated however the way that I think
things will change in the future and
they’re starting to now is that
individuals will instead of being
analyzed and described by their symptoms
they’ll be diagnosed by their genetics
so instead of treating someone’s
symptoms we’ll actually treat the
underlying person let’s take an example
this is a real life example this is a
young girl named Emma
Emma’s lived her entire life with
seizures she’s also had muscle loss and
been wheelchair-bound
based on a rare neurological disease
Emma tried many drugs none of them
worked to control her seizures or
reverse the experiences she’s having
it’s very hard on her family hard on
those around her all her loved ones and
we all want someone like Emma or someone
that we know to do better so in this
kind of a situation drugs that were made
for the masses aren’t going to
necessarily be known to how they would
help Emma the way that we can get to
this new future or this new state of
understanding precision medicine in
neurology is by taking three steps the
first one is to do sequencing and
understand what’s happening in someone’s
underlying genetics in their genome the
second one is to then build a replica
build a model of what somebody has in a
laboratory setting and the third one is
to then take drugs that are available or
design new drugs that could reverse the
activity of what is seen in that model
system and I’m gonna walk through each
of those in a little more detail now the
class of genetic sequencing has come
down tremendously it used to cost more
than a billion dollars to do the first
genome now it’s in the single-digit
thousands in terms of time
it used to take more than a decade to do
the first genome that can also now
happen in less than a week and in terms
of knowledge base by studying now tens
of thousands of people’s genetic
information there are large databases
built because every person has genetic
abnormalities but it’s important to know
which ones actually cause disease to be
able to treat an individual you have to
know what the root causes and genetics
helps you get there in the case of Emma
after work was done on her genetic
evaluation it was found that one
singular mutation and her entire genome
was likely what’s called pathogenic or
causal and causing her entire underlying
rare neurological disease so once this
was thought to be the cause that is part
of or the end of step one so here I’m
gonna try to break down models into two
general categories the first ones are
cells so those are just individual cells
those can come from humans those can
come from frogs they can come from many
different model systems but those cells
can be evaluated in a laboratory to have
the exact mutation that Emma or somebody
else has been shown to have on their
sequencing report insert it into those
cells another option are animal models
antal models are great because they’re a
living system not just a cell however
you can only test one drug at a time in
an animal model so the cells let you
test many at a time that high-throughput
system is much more readily helpful to
try to find a drug when you’re testing
many today’s conversation we’ll focus on
the cellular models in terms of this
example so in the case of Emma again
after that mutation was identified as
being causal of the model was built in
cells in a laboratory with the exact
mutation that Emma has and I’m a
situation you have the evaluation here
where there is the wild-type on the
left-hand side and the wild-type is what
anybody would have Emma is on the right
in red so she had an excitability or an
over-excitement of her cells as an
output and those cells represent an
exact understanding
this is likely the causal mutation the
reason that she’s living with her rare
neurological disease and the next step
researchers are going to go and evaluate
actual drugs the way this happens is
starting with a set of Wells so if
thinking about the cellular model each
of these wells represents a small
environment that has Emma’s exact
mutation in it and these are plated out
over 1,300 times to try to find drugs
that could work today repurposed or
generic drugs that are available on the
market but not indicated for seizures
are not indicated for the muscle loss
that she’s been experiencing these drugs
are then taken and placed in each of the
1300 different Wells the really good
thing about doing this kind of research
is that it’s come down and cost over
time meaning that these high-throughput
machines contesta thousands and
thousands of drugs in the period of a
day however the cause is still not
accessible for the masses of people who
need this kind of a service also by
using repurposed drugs or generic drugs
that are on the market a physician knows
the exact side-effects of each and can
make a treatment decision that they
think can help a patient and the third
thing is that these drugs are generic so
they’re available today at the pharmacy
and they’re very low in cost so in the
case of EMA what was wonderful in this
example is that after doing all this
research paroxetine better known as
paxil was found to be a hit in the model
system it reduced that excitability the
physician then read the report took
paxil gave it to Emma she slept through
the night for the first night of her
entire life her first night on paxil she
took her first swim class two weeks
later and she had no seizures on paxil
over the next 14 months so these
examples are already starting to be real
but they’re singular examples in the
future where we want to go is to make
sure that people like Emma or your loved
ones don’t have to go through drug after
drug after drug that were designed for
the masses
and not specifically for them in the
future the way that will do this work is
that individuals will be sequenced the
model system is built and drugs are
tested and then positions have new
options to make an impact today and I
can’t wait until we get there thank you
[Applause] [Music]
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