WEBVTT
Kind: captions
Language: en

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- The thing that's really
remarkable about the skin

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is that it's a single cell

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that makes up the entire skin.

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But in fact, that skin cell requires

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an orchestrated expression of hundreds

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if not thousands of different genes

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in order to fulfill those different roles.

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And so when one of those genes goes wrong,

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the whole skin changes.

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- I have a condition called

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disseminated superficial
actinic porokeratosis

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also commonly known as DSAP.

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The texture is very rough.

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It's a scaly feeling.

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If you've been in the sun,

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it can turn red.

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- Most disorders have a genetic basis.

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And in the case of skin disease,

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it's incredibly easy to
see those genetic events.

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They are the basis of

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the moles that we have on our arm,

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they're the basis of even
the acne or psoriasis

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that we might develop.

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- It's frustrating when you see

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the condition yourself getting worse

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and there's just absolutely nothing.

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- We were able to take
a piece of your tissue

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or a swab from the inside of your cheek

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or a little bit of blood, take
it back to the laboratory,

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analyze the entire genome

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and look for what mutations
underlie that disease

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in the laboratory.

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- The opportunity to work with Yale,

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it was really what I saw as my best chance

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of being able to actually
figure this condition out.

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- By studying genetic disease,
we can discover pathways

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that are relevant to both
the cause of that disease

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but also potentially to
the cure of that disease.

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And so when we find a
mutation in a new gene,

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the first thing that we do is you say,

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"Well, what is the normal
function of this gene

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"within the skin?

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"What does it do?"

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We can then think about

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what this pathogenesis
of the disease might be.

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- They found something similar
in our case to another case

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and they propose the treatment.

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- Some of the mutations that we see

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in these rare scaly skin disorders

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actually also very relevant
to garden variety eczema

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and so by identifying new
parts of that genetic puzzle,

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these rare diseases unlock insights

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that become relevant to
common diseases as well.

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- Typically you to a dermatologist

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and they tell you what they know

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and that's it.

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Working with Dr. Choate's team

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is you get access to not
just the clinical side,

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but also the research.

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That is something that
really gets to the root

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of the science behind all of this.

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The condition has become
much more manageable.

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I no longer think twice
about going outside

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and having to be completely covered up.

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It's made my life much better.

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- [Dr. Choate] We've really had the
opportunity here at Yale

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to define over a dozen
new genetic skin disorders

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to understand their genetic basis

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and in fact, in the
case of a couple of them

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come up with cures.

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It's in studying these
fundamental pathways

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within the skin and within human disease

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that we ultimately develop things

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that are relevant to treating people.