Interviewer: Stepping out of the Ivory Tower and into the arms of the patient community. Up next on The Scope.
Announcer: Examining the latest research and telling you about the latest breakthroughs. The Science and Research Show is on The Scope.
Interviewer: I'm talking with Dr. Gabrielle Kardon, Associate Professor of Human Genetics at the University of Utah. Dr. Kardon you were in Washington D.C. last week, what were you doing there?
Dr. Kardon: The purpose of the whole trip to D.C. was to go with these families who are all affected by congenital diaphragmatic hernias. So this is a common birth defect that affects about 1 in 3,000 children, and to rally support from the House and Senate for increased funding for NIH, in particular for birth defects and CDH.
Interviewer: Could you have imagined doing this a year ago?
Dr. Kardon: Well maybe a year ago, but five years ago I wouldn't have. What we were able to find is that the connective tissue, which is basically the matrix that's surrounding the muscle and hooking the muscle to the tendon was regulating everything about development of the diaphragm's muscle. It controlled normal development, and that actually mutations in the connective tissue were the cause of this very common birth defect.
At first it was it's just a really interesting scientific questions and then over the years as we started to make progress and we realized that actually maybe we could gain some serious insights, then I was very interested in connecting with the families. In part just because you get interested in it and you want to know really what is the situation if you have CDH. And then in part because it turns out the family members have lots of information that they don't realize that they have that gives you incredible insight into the birth defect.
Interviewer: Is it fair to say that this intersection with this disease has totally refocused, at least part of your lab?
Dr. Kardon: Yes. I had always worked on limb development and limb defects, but now more than half the lab is working on the diaphragm.
Interviewer: You have mentioned that they have information that has helped you. What kind of information?
Dr. Kardon: So for instance, I was talking to parents in D.C. and there were at least two parents who were talking about CDH babies in which also in that baby was not only this diaphragmatic hernia, but they had a cleft palate. And it turns out that there are developmental processes that are very strongly linked between the two and so to see them repeatedly in the same patient gives you some insight into the science behind it, so that was something that was really interesting.
Interviewer: Do you think that you've been able to give something back to them? Do you talk to them about your science and do they understand it?
Dr. Kardon: Right. Actually, I think there's one way that was sort of surprising that I think maybe had the most impact on them. There's an enormous variability in the single diagnosis and for the families that's really hard. So it is really hard to be the parent of a child who dies and meet up and see a parent of a kid who also has the same defect, but looks completely normal. And I think that's very difficult, I think it's difficult to be a cohesive group when there's such different outcomes.
So I think the thing that I could contribute to that conversation is to tell them that there are good genetic reasons as to why there's such variability and in fact this is one of the real scientific conundrums about the defect is that there are many ways to get a hernia. And in part some of those ways to get it involves this de novo mutations that arise in the kids and when and where those mutations arise really affects the outcome. And so that when as a parent, as a pregnant mother, you're diagnosed at 20 weeks with the CDH, you have absolutely no idea what's going to happen when your baby is born.
Interviewer: So it's not their fault.
Dr. Kardon: It's not their fault and it's very different from let's say, people who have Duchenne muscular dystrophy, where they're all pretty... there's some uniformity to the disease. There's a pretty general progression. There is not any uniformity in CDH, which makes it really difficult.
Interviewer: Do you think they take comfort? Some people have taken comfort in knowing that?
Dr. Kardon: I don't know, it's hard to know. This is my first sort of serious interaction with patients... sorry, with parents of patients and with patients, and some of the parents it was pretty raw. There were parents who were at this meeting who have lost their baby only a month ago. So they're in a tough place.
Interviewer: Yeah. Obviously this turned into kind of an emotional investment, as well as a time investment. I don't know, what does that mean for you?
Dr. Kardon: I don't know. I make a pretty serious commitment to do the science, and that commitment means that I'm taking time away from my family, and so I would hope that what I'm doing should be something that's important and makes an impact on someone. And so it's helpful to see who that would make a difference to. And I really am still a basic scientist. But it's kind of hard when you're working in this direction and you can see that there are hints that you may be able to do something in terms of therapy and it feels like it's a challenge, it's kind of this puzzle, "Why wouldn't you do it?" We could actually do some clinical trials using mice, now wouldn't that be really interesting?
Interviewer: Is there anything that you can think of that you want to make sure to get across?
Dr. Kardon: I guess the one thing it's really that scientists sometimes shy away from interacting with the patients of the families and it seems a shame, it seems like you can learn so much from them. They have an enormous amount of knowledge that they don't even realize that they have about the disease. It's just buried in them, funny little observations that they have made. And you come in there with a completely different set of eyes and talk to them, and they'll say something and you'll go, "Wait, wait, say that again. What is it? What happened here?" And you learn a huge amount from them, so I think it's really worth while.
Announcer: Interesting, informative, and all in the name of better health. This is the Scope Health Science's Radio.
