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Nature Podcast Digest, Review Homework Worksheet

2012年6月18日

The audio file of this podcast: http://www.nature.com/nature/podcast/archive.html

The original script of this podcast: http://www.nature.com/nature/podcast/v484/n7393/nature-2012-04-12.html

☆Read the following part of Nature Podcast Digest 2012/03/01, and do the following tasks.
Geoff Marsh: Tests eventually gave a tentative diagnosis(仮診断), a genetic disorder called SCID, severe combined immunodeficiency(重症複合免疫不全), but pending further tests (再検査待ちで)Raylon again was sent home with his parents. At the end of his tether(我慢の限界で) Leon contacted Kevin Strauss a paediatrician(小児科医) at the clinic for special children in Strasburg Pennsylvania.

Trisha Gura: What the clinic does is it beds(装備している)in the middle of a cornfield(田んぼの真ん中に)all the high tech tools of genomics(遺伝子額)and it actually puts them to work in real everyday clinical care.

Trisha Gura: The two doctors of the clinic start with the genetic diagnosis of DNA sample that they used at lab to try to come up with a diagnosis but they keep ongoing trying to find any sort of a cure or treatment that will help these kids. It is probably the only clinic in the world that has both a hitching post(動物をつなぐための柱)and an Ion Torrent sequencer(イオン・トレント・分析器) and the clinic uses both because the Amish and Mennonite, many of them eschew technology such as cars or cell phones and drive horses and buggies.

Geoff Marsh: Strauss immediately set about organising a bone marrow transplant(骨髄移植)for Raylon but it’s all came too late and he passed away just over six months of age. Then in 2011 the Hoover family had another child Kendra and the nightmare seemed to be recurring.

Leon Hoover: So, I called Kevin back and I really think we have a SCID baby. He said well come on Leon whatever we can, we will have to, do this together, when he said we’ll have to do this together it did really matter.

Geoff Marsh: So with Kendra there was much more rapid response which meant that she was able to be diagnosed and treated very quickly. Why was this clinic especially placed to do that?

Trisha Gura: Kendra was diagnosed within 12 hours of birth, within another 24 hours Kevin Strauss was in the car in order to find a bone marrow donor(骨髄提供者)from 16 relatives(親戚). They had a match within 48 hours and Kendra received her bone marrow transplant(移植)within 16 days of birth that is completely unheard of in a regular traditional medical system.

Geoff Marsh: And let’s just expand on how this clinic does differ from the normal model of genomic medicine.

Trisha Gura: More often than not(大抵)genomics tools reside in a laboratory. Laboratories are not allowed to do work for clinic unless they have special clearance(許可)and so it takes a long time to get these sorts of diagnoses and often the only way one can do so is that the patient is involved in a research study. This clinic is with beds in it, its laboratory so therefore Dr. Strauss or Dr. Puffenberger can order a test in the same way that a regular physician could order a cholesterol test(通常の医者がコレステロール値検査を頼むのと同じ感じで).

Trisha Gura: Mennonites and Amish are almost a throw back(先祖がえり), they immigrated here at the beginning of the 18th century. They were a small group of founder families, so families know of each other so when a child comes into the clinic with a specific illness and no one knows what it is, more often than not there is another family residing somewhere nearby that everybody knows about with the same disease and that sort of connection helps the researchers out immensely when they’re trying to hunt down the causes for various illnesses.

Geoff Marsh: Does it all seem a bit strange to you that these you know essentially technology shunning people are embracing these very high-tech facilities.

Trisha Gura: One would thinks so but if it’s something that separates or divides from each other like a television set or a cell phone then the communities or the churches tend to shoo the technology but if it’s something that brings them together like medical technology that helps children then the communities unanimously(満場一致で)embrace it.

Geoff Marsh: Does it serve as a model for you know places outside of these communities or is this community really very unique?

Trisha Gura: It depends on who you talk to, but the community can be a model for clinics elsewhere for a lot of reasons. The main one is there is no such thing as one general population.(単一の一般的な人々など存在しない) It’s actually sub population of different groups(様々な集団が更に細かく分かれている)so if you’re dealing with these sub populations then the clinic provides a better smaller model of what genetics might be rather than trying to look at the whole world as one general population and then sort to the genes that way.

Tasks
1. What is special about the clinique? Answer based on the following excerpt.
Trisha Gura: More often than not(大抵)genomics tools reside in a laboratory. Laboratories are not allowed to do work for clinic unless they have special clearance(許可)and so it takes a long time to get these sorts of diagnoses and often the only way one can do so is that the patient is involved in a research study. This clinic is with beds in it, its laboratory so therefore Dr. Strauss or Dr. Puffenberger can order a test in the same way that a regular physician could order a cholesterol test.

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2. Why does it take less time to diagnose and treat an Armish person with a genomic disease than it is to diagnose and treat a person who is not Armish? Answer based on the following excerpt.
Trisha Gura: Mennonites and Amish are almost a throw back(先祖がえり), they immigrated here at the beginning of the 18th century. They were a small group of founder families, so families know of each other so when a child comes into the clinic with a specific illness and no one knows what it is, more often than not there is another family residing somewhere nearby that everybody knows about with the same disease and that sort of connection helps the researchers out immensely when they’re trying to hunt down the causes for various illnesses.

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3. In what point does this clinic serve as a model for regional medicine?
The main one is there is no such thing as one general population.(単一の一般的な人々など存在しない) It’s actually sub population of different groups(様々な集団が更に細かく分かれている)so if you’re dealing with these sub populations then the clinic provides a better smaller model of what genetics might be rather than trying to look at the whole world as one general population and then sort to the genes that way.

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You could use the following Japanese summery to do these tasks.
通常ありえない速さで重度の遺伝子異常障害の特定・治療を可能にしたのは、研究所と同じ検査機器のある病院と、遺伝関連の同じ症例を見つけやすいアーミッシュ社会だった。地域に即した医療のモデルとしても参考になる。(アーミッシュ: 18世紀初頭とほぼ変わらない生活を続けるキリスト教徒の一派で近親者同志が比較的近距離で生活している。共同体の結束強化に役立つ場合に限り科学技術を歓迎する。)

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