Lakshmi Mehta, M.D Medical Genetics from Mount Sinai Medical Center talks about Tay Sachs Disease,
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Male Speaker: It’s called Tay-Sachs. What is Tay-Sachs? Why would they be worried about it? Lakshmi Mehta: The Tay-Sachs disease is a severe neurodegenerative disorder. So babies are born looking normal, but over the next few months they start deteriorating neurologically and it's a fatal disease, eventually the children will die. Male Speaker: How soon that they die? Lakshmi Mehta: They die within, like a year or two. Male Speaker: A year or two. Lakshmi Mehta: Yeah. Male Speaker: And they have trouble with muscles, and the brain -- Lakshmi Mehta: They basically lose all their mind storms and their vision, and there is no treatment for it, and no cure of it. It's an enzyme deficiency, it's called hexosaminidase, and about it's a recessive disease, about one in twenty five, Ashkenazi Jewish people are the carriers. Male Speaker: It's a -- Lakshmi Mehta: Gene. Male Speaker: It's recessive? Lakshmi Mehta: It is recessive. Male Speaker: So both parents have to carry it. Lakshmi Mehta: Both parents have to carry it and one in 25 -- Male Speaker: Are you getting people come for. People come to you, before to get married to check things up before they get together? Lakshmi Mehta: Yes, and we actually nine Jewish genetic diseases now. Male Speaker: So if you don't like your daughter's future husband, check him out, and you say, oh, you've got a problem here. Lakshmi Mehta: There are different ways that screening is done. There is a program called Dor Yeshorim, actually orthodox Jewish communities, where basically as teenagers, individuals are screened. So they have this database of what who carries, and when a match is proposed for one of those individuals. Male Speaker: You mean love isn't involved in here anymore? Lakshmi Mehta: No, love. When the matchmaker – Male Speaker: What if you notice that if love goes in? Lakshmi Mehta: So the matchmaker says, this is not compatible. He won't even tell you what you carry, but he'll tell them --- Male Speaker: Oh, they don’t even know themselves? Lakshmi Mehta: They don't know which, what gene they carry, but they are told that it's not a good match if they are both carrying the same genetic problem. Male Speaker: So they'll say this is not a good deal? Lakshmi Mehta: it's not a good deal, and then he'll find you someone else who is not a carrier, maybe someone -- Male Speaker: If a kid is born and they didn't do all the tests, what could they do when a baby is born to pick up Tay-Sachs? Lakshmi Mehta: Well, there isn't any screening at birth, so if a baby is -- I think it's extremely unusual today in our area that an Ashkanzi Jewish individual is not screened for Tay-Sachs. I think at some level they are all picked up but you would have to do a blood test for an enzyme. Male Speaker: What's the name of that enzyme? Lakshmi Mehta: The enzyme is hexosaminidase, but rather than check the baby, I would check the parents to see if they are really carriers, and at any time, and if only if they are both carriers would be concerned about the baby, and then the baby can have the blood test. Male Speaker: How many Tay-Sachs are there born every year? Are that many? Lakshmi Mehta: It's very rare now. Male Speaker: It's less and less, because we are screening. Lakshmi Mehta: Because of the screening, but now – Male Speaker: So let's kind of pick, you're out of business, by not having problems. Lakshmi Mehta: Well, actually today, don't be too surprised, sometimes we do see Tay-Sachs in couples that are mixed ethnic background now. Male Speaker: You don't have to be an Ashkanzi Jewish? Lakshmi Mehta: No, one in 200 non-Ashkanzi Jewish people could be carriers. So it's much rarer versus one in 25 but if you see Tay-Sachs, actually it's more often to a couple who is of mixed.
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