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MT: My name is Michael Twery. I'm the director of the National Center on Sleep Disorders Research
at the National Heart, Lung, and Blood Institute and I'm here today with
Dr. Emmanuel Mignot of Stanford University,
one of our leading researchers working on narcolepsy research and
causes of sleepiness and the genetics of narcolepsy and its treatment.
Dr. Mignot, why don't you tell us a little bit about your research.
EM: So when I started to work on narcolepsy, it was not recognized.
So people were misdiagnosed, people didn't even know what it was.
So they were seeing doctors and the doctors weren't able to say what you have.
At the time I remember diagnosing patients, it's not so difficult,
they give you the symptoms and I tell them that's what you have.
And then some of them would literally cry because for the first time, you know,
they had been told they were crazy and for the first time you could tell them, "This is your problem."
And they know that you know. It's like suddenly you describe the symptoms the way they have them
so they know that you have found their problem.
That's extremely important. The second thing is
we discovered it has a biochemical cause. It's not in their mind.
It's like a little chemical that's missing in their brain that helps to stay asleep and fund your dream.
When this chemical is not present, you have narcolepsy.
Now we have a test where we can do a biochemical test and say yes,
the chemical is missing, you have narcolepsy. And then—
MT: It's kind of a fairy tale come true. You've discovered the proteins, the genes,
there's drugs that act on these pathways, right? So it's all coming to fruition.
EM: So even more exciting I think 10 years after this particular discovery of the link between
this chemical called hypocretin or orexin, and the lack of it and the cause of narcolepsy,
we now have drugs that are under review at the FDA for first actually insomnia.
Because people who have sleep problems it's more common actually to have insomnia.
The first thing the pharmaceutical company did is actually to block the hypocretin system
to make people sleep and dream better.
And I think now people are starting to think of doing the opposite, which is what I really want.
Is a drug that would stimulate and replace your orexin/hypocretin
so it would replace what's missing in patients with narcolepsy.
And that should really be the best treatment for them.
It should be like insulin for people with type 1 diabetes who don't have, you know.
It will happen. It's probably going to take 10 more years.
Which to be honest as a scientist, it's long but it's not that long.
MT: You didn't mention the discovering or advancing our understanding of how narcolepsy comes about.
You mentioned that it's not just a part of someone's personality but there's actually a biological cause.
Is this something that afflicts people? Are they born with it?
EM: No, they develop it.
People are born completely normal, they just have a genetic predisposition that many other people have.
Maybe I would say 20 percent of the population has that genetic predisposition.
And then what we are learning now is when you get certain infections,
it triggers the immune system start to fight the infection but makes a mistake
and attacks the brain cells that produce hypocretin,
confusing them with some kind of bugs that you have been exposed to.
That's called an autoimmune disease.
Then the cells that produce hypocretin are killed by mistake by the immune system
and then you have narcolepsy.
This research doesn't only have implications for sleep in general,
it has implications for infection, vaccination, as well as immunology and autoimmune disease.
And eventually I think by maybe vaccinations or immunological prevention
we might be able to stop even narcolepsy from starting in the people who are susceptible.
And, you know, I don't think you can tell that before you start researching.
So I think you have to be very flexible.
And right now the technology's so amazing that we can make a lot of progress.
I do believe NIH is really indispensible, and the flexibility is very important,
being able to go into different fields and be reviewed by the best experts.
It's a good system.
MT: Thank you very much, Dr. Mignot.
I really enjoyed your taking some time. It's a great story of discovery.
EM: Thank you, it's a pleasure.