What Is the Genetic Research of Cystic Fibrosis

Host: Well, repairing chromosome and genetics can stop this? Lakshmi Mehta: Not at the moment. Host: But that's something that we are looking into, maybe down the road? Lakshmi Mehta: They're looking more into I think, to start off with like gene therapy for conditions like cystic fibrosis. We have known sickle cell anemia for how many thousands of years. Host: Right. Lakshmi Mehta: And we still haven't got gene therapy for it. Host: But we are looking? Lakshmi Mehta: But they are trying to insert normal copy of the gene into what we call a vector, and then you have to introduce that vector into the person's tissues somehow, so that it produces the correct gene product, and that's not as easy as it sounds, and they have had some bad experiences with it. Sometimes we were stopped in between. Host: It's because of cancer or something? Lakshmi Mehta: More on from the vector causing the problems, that the viral vector usually that's inactivated. So it's not -- it's not taken off yet. We need one breakthrough, maybe it will apply to the whole lot of diseases. Host: But we are not going to give up? Lakshmi Mehta: Not at all. In Duchene Muscular Dystrophy, they are trying to actually insert myoblast, with the corrected gene into the muscle of the patients, to see if that will work. So cystic fibrosis, they are trying inhaled vectors, so far it's been very slow. Host: Sometimes you get a call, they are going to have the baby, and someone said to them, you might have cystic fibrosis kid. Why would they say that? They didn't have a baby. They did some tests, while testing, they can judge you on a pregnancy, and say, maybe you could have a cystic fibrosis kid. Lakshmi Mehta: In the pregnancy today, there is screening offered to any woman who is considering pregnancy, and that's checks for -- the screening test is intended to pick up common diseases, and things you can do something that. Host: But say if they had -- they came back, oh, there might be a chances of cystic fibrosis. Is that a big chance or a little chance? Lakshmi Mehta: Well, if the parent is found to be a carrier, if the moment she's screened, she has a gene test, that actually looks at the changes in the cystic fibrosis gene, and there is a pattern of gene changes that accounts for the majority of mutations. Host: And she marries a man who doesn't have anything. Lakshmi Mehta: Then they are okay. Host: They are okay? Lakshmi Mehta: But the man has to be tested, if she is a carrier, the man has to be tested, and they have to understand that this is not an absolute 100% test. Host: And even if their fault's founded? Lakshmi Mehta: There's still only a one in four chance. Host: One in four. So three fourths were okay. Lakshmi Mehta: They'll still be okay and there is testing that can be offered to them in the pregnancy, if they want to know, and I want to say that not everybody who has a test in a pregnancy, necessarily does it because they'll terminate the pregnancy. There are people who do testing, and will not terminate the pregnancy, but they want to know, they want to be prepared for the birth of the child. Host: So it's where newborn screen comes back. Lakshmi Mehta: And then newborn screening will -- Host: And then even that thing may not be even accurate. Lakshmi Mehta: That may not also be accurate. So eventually if the newborn screen comes back positive, you end up -- [Note: This audio ends abruptly]