Customized Treatment For Rare Skin Disease Through Genetics

Transcript

• 00:04- The thing that's really remarkable about the skin
• 00:07is that it's a single cell
• 00:08that makes up the entire skin.
• 00:10But in fact, that skin cell requires
• 00:13an orchestrated expression of hundreds
• 00:15if not thousands of different genes
• 00:17in order to fulfill those different roles.
• 00:19And so when one of those genes goes wrong,
• 00:23the whole skin changes.
• 00:26- I have a condition called
• 00:28disseminated superficial actinic porokeratosis
• 00:32also commonly known as DSAP.
• 00:35The texture is very rough.
• 00:37It's a scaly feeling.
• 00:39If you've been in the sun,
• 00:40it can turn red.
• 00:43- Most disorders have a genetic basis.
• 00:46And in the case of skin disease,
• 00:47it's incredibly easy to see those genetic events.
• 00:51They are the basis of
• 00:53the moles that we have on our arm,
• 00:54they're the basis of even the acne or psoriasis
• 00:58that we might develop.
• 01:00- It's frustrating when you see
• 01:03the condition yourself getting worse
• 01:05and there's just absolutely nothing.
• 01:20- We were able to take a piece of your tissue
• 01:23or a swab from the inside of your cheek
• 01:25or a little bit of blood, take it back to the laboratory,
• 01:29analyze the entire genome
• 01:31and look for what mutations underlie that disease
• 01:33in the laboratory.
• 01:35- The opportunity to work with Yale,
• 01:39it was really what I saw as my best chance
• 01:42of being able to actually figure this condition out.
• 01:46- By studying genetic disease, we can discover pathways
• 01:49that are relevant to both the cause of that disease
• 01:53but also potentially to the cure of that disease.
• 02:02And so when we find a mutation in a new gene,
• 02:05the first thing that we do is you say,
• 02:07"Well, what is the normal function of this gene
• 02:09"within the skin?
• 02:10"What does it do?"
• 02:11We can then think about
• 02:12what this pathogenesis of the disease might be.
• 02:16- They found something similar in our case to another case
• 02:21and they propose the treatment.
• 02:44- Some of the mutations that we see
• 02:45in these rare scaly skin disorders
• 02:47actually also very relevant to garden variety eczema
• 02:50and so by identifying new parts of that genetic puzzle,
• 02:53these rare diseases unlock insights
• 02:56that become relevant to common diseases as well.
• 02:58- Typically you to a dermatologist
• 03:01and they tell you what they know
• 03:03and that's it.
• 03:04Working with Dr. Choate's team
• 03:06is you get access to not just the clinical side,
• 03:09but also the research.
• 03:11That is something that really gets to the root
• 03:13of the science behind all of this.
• 03:16The condition has become much more manageable.
• 03:19I no longer think twice about going outside
• 03:23and having to be completely covered up.
• 03:26It's made my life much better.
• 03:28- [Dr. Choate] We've really had the opportunity here at Yale
• 03:31to define over a dozen new genetic skin disorders
• 03:34to understand their genetic basis
• 03:36and in fact, in the case of a couple of them
• 03:38come up with cures.
• 03:40It's in studying these fundamental pathways
• 03:42within the skin and within human disease
• 03:44that we ultimately develop things
• 03:47that are relevant to treating people.