the ok
my name's Heather McNamara and where at
I'm the National Eye Institute
which is part of National Institute of Health I was sitting in my lab
so I work on a genetic disease.
I primary focus on a disease called Bardet-Biedl Syndrome
but its part of an umbrella of diseases that are all called Ciliopathies.
When part of the cell called the cilium
isn't working anymore you can get a loads of different
symptoms, blindness obesity, kidney disease
I never really know what to say when people as me where I'm from because I was
born in the UK
but we lived in lots of different country's growing up I loved science;
I always did physics then math and I just really thought biology really
cool
so I went to the University bomb and studied biochemistry
and I just really loved understanding how the cell work
and especially with biochemistry its more-its not just pure chemistry but its not pure
biology, its kind of really
understanding about all the different mechanisms, enzymes and the
molecules in the cell,
but I really wanted to relate that to a disease into human disease and I
with very very very lucky because I fell into a great lab with the really really
great
supervisor and they were all studying this disease
that I was mentioning themBardet-Biedl Syndrome;
so here you can see like a sheet of cells and this is
this for example is one cell and this is his hair sticking out
and that's called a syllium and it's kind of like the antenna
now so this psyllium seems to be important for many many different
aspects in the cell.
And because most cells in the body
have one of these if the cycillium doesn't work anymore then you're going to have
problems,
but there's a cell company I called the photoreceptor
and if this cycillium in the photoreceptor doesn't work
these cells die and that's why I thought is very important to com and
study this disease
at the National Eye Institute. I grow cells;
I isolate proteins and look how the different proteins interact with each
other and we have various different ways that we can do this
and so I can
remove the liquid. I change tips each time so that you have a
clean tip for each chamber and you do the same for the next one.
I look at cells in a dish and we can
stain them with different markers to actually look at the siliam and
we can manipulate those cells to see if the cilia change
so that was a fibroblast cell so it was a skin cell
and that we stained with these two markers
that would label the cilary axcemen and the cilary membrane. You have to
have perseverance and know that you know sometimes it is going to take
twenty times to do something and that they're always variables but
if you can you know on the 20th time you really have that you re como bit and
you'll be jumping up and down
in front if you're with block machine because you'd fit by anything about and
you've never seen before
the also you have to be very humbling realized that not all your theories are
gonna be right
long like buses name US hours want to come along and people like her
yeah eventually we do want to look at treatment options
to see if we can maybe replace what is missing in the patient self
right now we are moving forward we've got some great candidates we've got some
options that we're working on way of starting to see
some improvement your thing to members ten years ago
we didn't know what this was we didn't know what gene the memorials were
involved we knew nothing
at least now we kind of have we have a building blocks and now it's on to put
them together to figure out how they work
know whenever it rains the UN the communication and
you know writing PowerPoint presentations are explaining your work
to other people
that will help you more than anything out so when we have to make big as yet
not physically a
using Photoshop to make your panel's a
taking a beautiful pictures and make but turning into a story that you can
unit explain the work being done oh yeah
I like that picture own on a daily basis we have
meetings in that meeting for the stuff in a project where they going
these are my myself and I was gonna stay in them with this one with PCM one
and damage even and that one lap wanna pay attention
do you think that's a good idea yes yeah did you try it before
you 11 K 121 K
okay get ready it really is a privilege to work in science
because not many people get to do it it is tough if you're interested in
something
in be it engineering more physics or math
just to it because it cool and if you can follow that grill
it would feel like it's a job button if you get the opportunity to do it
you won't be displayed the moral
the
way the mall
when where the mind
way
way the park
ok
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