英語語言學(xué)習(xí)：女兒的遺傳缺陷

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Some people in life can see whole worlds in small things. Hugh Rienhoff can see it in a molecule called transforming growth factor-beta 3. In 2003, his daughter, Beatrice, was born with a few noticeable abnormalities. Her eyes were spaced wider than usual; her leg muscles were weak; and she wouldn't gain weight. It resembled Marfan syndrome, a genetic disorder that can cause tears in the human heart, sometimes fatally.

Doctors couldn't diagnose Beatrice with Marfan - or any known disorder. So Hugh Rienhoff, who trained as a clinical geneticist, decided to try to identify the mysterious affliction that had struck his daughter. For nearly a decade, he's been on a hunt to find the genetic mutation that is responsible for Beatrice's illness and now, he's published an academic paper that may trace the route to a mutation in the gene that makes transforming growth factor-beta 3. It isn't a cure, but it is a big step.

Hugh Rienhoff joins us now from their family vacation. Thanks for making time for us.

HUGH RIENHOFF: My pleasure, Scott.

SIMON: First, how's Beatrice doing?

RIENHOFF: Beatrice is a sassy and bright 9-year-old and in general, she's doing quite well.

SIMON: Now, you are not exactly an amateur, but I gather you bought a DIY DNA kit a number of years ago, for about $2,000.

RIENHOFF: Yeah. What I did was, in order to do the complete job, I had to go to eBay and places like that, and buy all the bits and pieces that allow you to do the first step of DNA analysis.

SIMON: Did it ever occur to you to just let doctors and experts do it?

RIENHOFF: Well, I'm a physician, and I trained as a clinical geneticist, you know, at the laboratory bench. So I was not really content to just be told to go home and wait until science would catch up with Beatrice.

SIMON: As we mentioned, it's a step forward but not a cure. What happens now?

RIENHOFF: Well, I think the reason to publish the paper is the announcement, if you will, to the scientific world that this gene can be mutated. And this is at least what it looks like in one person and can we find others, perhaps older patients, and understand what's the long-term prognosis in a patient who has a mutation in this gene; because that could give us - you know, if we found a bunch of 80-year-olds who had mutations in TGF-beta 3 who were just skinny, little people, well, then we'd be delighted - in a way - to know that they didn't die of sudden heart failure.

The other thing that we're doing is making a mouse that has Beatrice's exact genetic variant so that we may be able to recapitulate what Beatrice has so - you know, with the muscles and that sort of thing - and then study that mouse in great detail. And also...

SIMON: You're - I mean, you're making an actual, physical, fur-covered mouse?

RIENHOFF: Yeah. In fact, I just saw a picture of four of the pups today. They carry Bea's identical variation. Mice live to be 2, and so if they develop heart problems or vascular problems or other problems, we'll be able to know that - if we're not able to find other Beatrices.

SIMON: A lot of people, I gather, are very happy for you and certainly, for Beatrice, but is this necessarily a good example for other families that have a sick child?

RIENHOFF: Well, I think there are bits and pieces of it that are sort of universal. One is - I mean, I think all patients, or the parents of patients, are constantly exploring and pushing and asking questions; and I think we live in that era where information is so available that it's natural that we do that. And I think seeking out the person who's willing to be your advocate - as it turns out, you know, I was the father and the scientist, or at least the lead scientist.

I certainly didn't do all the work myself. But part of being a parent is seeking. And I think, you know, many folks get discouraged, and I think there are people out there who will listen. It just takes time to find them. And even somebody like myself, who might be considered, you know, endowed with some special knowledge, really, to be honest with you, it was more persistence than it was anything else, that allowed me to go forward and to study this.

SIMON: Well, Mr. Rienhoff, I hope you find a lot of 80-year-olds with what Beatrice has.

RIENHOFF: (Laughing) That's my hope as well.

SIMON: Hugh Rienhoff is a doctor and entrepreneur who lives in the Bay Area. He joined us while on vacation with his family. Mr. Rienhoff, thanks very much for being with us.

RIENHOFF: It's my pleasure, Scott. Thank you.