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New genetic research could provide life-changing treatments for the approximately 50 million people with epilepsy worldwide.
A study in the journal Nature has identified two genes and 25 mutations associated with the most serious forms of epilepsy.
By identifying these genes, doctors can develop targeted treatments.
Dr. David Goldstein, director of the Duke Center for Human Genome Variation, and Tracy Dixon-Salazar, a neurobiologist who is associate research director for Citizens United for Research in Epilepsy, join Here & Now to discuss the new research.
Dixon-Salazar started studying neurobiology when her daughter Savannah was diagnosed with a childhood epilepsy.
JEREMY HOBSON, HOST:
It's HERE AND NOW.
New genetic research could provide life-changing treatments for the approximately 50 million people with epilepsy worldwide. A study in the journal Nature has identified two genes and 25 mutations associated with the most serious forms of epilepsy. And by identifying these genes, doctors can develop targeted treatments. Joining us are Dr. David Goldstein, director of the Duke Center for Human Genome Variation, which conducted the analysis, and Tracy Dixon-Salazar of Citizens United for Research in Epilepsy in Chicago. Welcome to you both.
DR. DAVID GOLDSTEIN: Thank you.
TRACY DIXON-SALAZAR: Thank you.
HOBSON: Well, how significant is it that you have discovered these new genes and implicated 25 distinct mutations?
GOLDSTEIN: The thing that's most encouraging to me about the work is that we're really on a path to unlocking the genetics of these conditions. And the importance there is, as we find these distinct mutations, we can actually try to understand the biology of how they influence risk. And once we work that out, that surely will give us new directions for how to treat these conditions.
HOBSON: Well, Tracy Dixon-Salazar, your daughter was diagnosed with a type of childhood epilepsy which caused you to go into what you're doing now. You're now at the Citizens United for Research in Epilepsy. How significant is what has just been discovered?
DIXON-SALAZAR: Well, it's really significant to me in two ways. One, as a scientist, you know, somebody who's done the type of research that Dr. Goldstein is doing. So from a researcher's standpoint, it's thrilling. From the standpoint of a mother who basically watched my child over 18 years suffer over 30,000 seizures, fail 26 treatments and basically, you know, declined cognitively over that time, all the while when she was born, you know, perfectly healthy and was healthy for two years, it can't be over-emphasized what he has done here. He's basically, you know, given an answer of a driver gene, you know, to these families that have this horrible epilepsy.
HOBSON: Well, give us a sense of what it is like for her to live with the condition that she has.
DIXON-SALAZAR: It really is a hell that is without words to describe. Epilepsy is a condition where seizures can strike at any time and they do. So it's almost as if you're walking on pins and needles every second of every day. And the family suffers just as much as the person with epilepsy in many cases, because a seizure can strike at any time.
You know, our daughter wears a protective helmet because the seizures can come. She suffered many, many injuries. You know, at one point I think she was on nine different medications, which make you tired, which make you sick, which make you gain weight, lose weight. It really is a disorder that deserves much more attention than it gets.
HOBSON: Well, Dr. Goldstein, do you see this new research helping to advance treatments for epilepsy, for people who already have it?
GOLDSTEIN: It is true in many cases that the earlier you can start some kind of treatment to control the seizures, the better the patient does. And so we actually can hope that this kind of genetics can result in some cases in earlier diagnoses and treatment. In other cases we will be able to subgroup patients based upon their genetic causes in ways that inform about not only what's going to happen with them, their so-called prognosis, but the best way to treat them.
But longer term, what we need to do is understand what's gone wrong in an underlying biological, physiological, molecular sense, and use that information to develop smarter targeted therapies. And that's the direction that I think this kind of work really sets for us. We find out exactly what's gone wrong and then we try to target therapies to those pathways that have gone wrong because of the mutation.
HOBSON: Well, Tracy, I'm sure that over years you have heard of many studies that have come along that look like they're hopeful for people with epilepsy. Have you seen them pan out? Have you them not pan out? What is this like for you?
DIXON-SALAZAR: Well, there have been a lot of studies. You're absolutely right. But I have actually seen this work in my own daughter. She was enrolled in the study in the lab that I was working in doing my research, and we sequenced her (unintelligible) very much the same Dr. Goldstein has done with all the patients in his group. And what we found was that a certain pathway - it was calcium-signaling pathway - was very, very messed up in my daughter, basically. Many, many genes were carrying very rare, very - predicted to be severe mutations in calcium. And it made us, you know, follow a line of inquiry that would suggest that perhaps putting her on something that would limit calcium going into the cells of her neurons would be a good drug for her.
And we actually ended up putting her on that drug, and she's been on it for one year and nine months. And during that time she has had a 95 percent decrease in the number of seizures she's having. She was having up to 300 per month. And now she is having, you know, barely 20 a month of that, which is still too many, but it's not quite, you know, the horror that we were living before.
And I think more importantly was that, you know, at least once a week, if not three or four times a week, my daughter Savannah would go in to these non-stop seizures. They call it status epilepticus. And she would go into a seizure that wouldn't remit on its own. And the way to stop it is to give a rectal valium-like drug. And so she was getting that rectal valium-like drug several times a week, and that completely stopped.
So here's an example where we took the genetic makeup of my daughter and we personalized medicine, you know, in a way. We took an already FDA approved drug and we gave it to her, and it was the only thing in 18 years that ever made a remote amount of difference in her life.
GOLDSTEIN: So I think that really gives us a concrete example of what we are hoping for. And one thing that's worth emphasizing is that you can actually ask what drugs work the best to undo the effect of the mutation in the laboratory assay instead of testing all the possible drugs in the patient. We move some of that experimentation out of the patient. And as more and more patients are genetically explained, our capacity to do that will grow.
HOBSON: Tracy, just before we let you go, what's the long-term prognosis for your daughter at this point?
DIXON-SALAZAR: Well, having had as many seizures as she's had over the last 18 years, obviously, she is quite severely intellectually disabled. She is about a 5-year-old, even though she's 20 years old. And I think that she won't ever live independently, but I will tell you that having, you know, 100 percent of seizures be while she is asleep and coming off three medications like she has, it's like we're meeting her for the first time. She doesn't' spend 16 hours a day asleep. She talks. She can get her words out much more readily than she used to be able to. She's funny. She's bossy.
And it really is a whole new world for her. She can walk better. We don't, you know, guard her every step of the way that we used to because we were afraid she was going to crack her head open. It's really a whole new world for us. You know, we're afraid that the other shoe will drop at any minute, but we're enjoying every second of the break that we're getting.
HOBSON: We hope that improvement continues. Tracy Dixon-Salazar is associate research director of Citizens United for Research in Epilepsy. And we've also been speaking David Goldstein, director of the Duke Center for Human Genome Variation. Thanks to both of you.
GOLDSTEIN: It's been a pleasure. Thank you.
DIXON-SALAZAR: Thank you.
HOBSON: And still to come, passing on your books when you pass. Will that change with e-books? You're listening to HERE AND NOW. Transcript provided by NPR, Copyright NPR.