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  • 嶄新基因組科學解放RP研究 | 黃 義 基 金 會
    Size 93 語言 简体中文 繁體中文 English 首頁 部落格 fwong 的部落格 嶄新基因組科學解放RP研究 週四 06 16 2011 20 27 fwong 對於任何單一基因引起的疾病 又稱為孟德爾遺傳定律 或單基因病變 來說 造成病變的基因突變 是瞭解深層生物機理 以及設計治療方案的關鍵資訊 除了少數的案例 RP是單一基因引起的病變 也就是說 一名病人身體內的一個特定基因裏的一個或多個基因突變 是那位病人的RP成因所在 雖然在整體而言 已知有數以百計的基因突變 影響著數以十計的基因 其中每一個基因突變都有可能造成RP 這種現象稱為遺傳異質性 genetic heterogeneity 在還沒有關於數目的實質基礎之時 人們可以猜測約有100個遺傳基因與RP有關連 換句話說 這100個遺傳基因的任何突變 均可能造成RP 到今天為止 這100個基因中已經大約有一半被查明 依照孟德爾遺傳定律的屬性 計畫找出導致RP的所有遺傳突變 以及這些突變所影響的基因 已經不再是什麼新的構想 然而 因涉及大量基因 以及受當時應用的技術所限 到2009年這個領域的進度還是慢得叫人痛苦 基因組科學和DNA科技的重要突破 解除了束縛 將使這個進程大大加速 最佳的預測是 到2013年 包含所有導致RP的基因突變的資料庫將接近完成 這些技術突破的基礎 可歸納為以下幾點 大量正常人類基因變化以及已知致病基因突變的資料庫 可供任何人作個人基因變異的比較 即使不是全部 也可以確定能以可接受的價格例行地檢測出絕大部份個人的基因變異 有了經驗證的方法 任何人可以在二萬多個已公諸于世的基因變異當中 辨明個人的致病基因突變 大海撈針再也不是神話 今天 RP的研究正在發生變革

    Original URL path: http://huange.org/web6/zh-hant/node/31 (2016-02-16)
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  • Blogs | Huange Foundation
    stimulation and the remaining retinal network of neurons can in combination simulate visual information capture and processing of the normal retina A major step that validates this concept has just been published in the early edition of the current issue of Proceedings of the National Academy o fwong s blog Read more 简体中文 繁體中文 Stimulating the remaining retinal neurons to simulate visual information Wed 08 15 2012 09 42 fwong Recently there is excitement over the possibility of using a chemical called acrylamide azobenzene quaternary ammonium AAQ to restore vision in people who are blind from advanced retinal degenerations This method is attractive because it does not require elaborate procedures such as gene therapy unlike other highly invasive surgical approaches it is reversible However AAQ was not tested in humans and its development is still at the proof of concept stage fwong s blog Read more 简体中文 繁體中文 Preliminary report on the first two patients treated with human embryonic stem cell derived cells Sat 02 25 2012 09 40 admin Dr Shiu Y Kwok On January 24 medical journal Lancet published on line the preliminary results of a clinical trial using human embryonic stem cells to treat two blind patients One patient had dry age related macular degeneration and the other Stargardt s disease In both conditions there are loss of retinal pigment epithelium cells admin s blog Read more 简体中文 繁體中文 One Picture is Worth Ten Thousand Words 一畫勝千言 Sat 08 20 2011 09 12 fwong In my blog from two months ago I claimed that the environment of RP research is being transformed by recent breakthroughs in genome science and DNA technology Some readers wondered how is that related to finding RP treatment To address this question I would like to discuss genotype phenotype correlation for RP patients

    Original URL path: http://huange.org/web6/blog?destination=blog (2016-02-16)
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  • 论坛 | 黄 义 基 金 会
    Size 93 语言 简体中文 繁體中文 English 首页 论坛 论坛 The text size have been saved as 100 The text size have been saved as 100 The text size have been saved as 93 登录 发表讨论版新文章 论坛 主题 帖子 最新文章 成员讨论区

    Original URL path: http://huange.org/web6/zh-hans/forum (2016-02-16)
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  • 論壇 | 黃 義 基 金 會
    導航 最新文章 RSS 聯播 使用者登入 使用者名稱 密碼 註冊新帳號 索取新密碼 Text Size Increase Normal Decrease Current Size 93 語言 简体中文 繁體中文 English 首頁 論壇 論壇 登入 發表討論版新文章 討論區 主題 文章 最新文章 成員討論區 成員討論區 聊聊最新科研成果 聊聊最新科研成果 支持科研隊伍 0 0 n a 成員互動交流區

    Original URL path: http://huange.org/web6/zh-hant/forum (2016-02-16)
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  • User account | Huange Foundation
    Us Navigation Recent posts Feed aggregator Text Size Increase Normal Decrease Current Size 93 Languages 简体中文 繁體中文 English Home User account Create new account Log in Request new password Username Enter your Huange Foundation username Password Enter the password that

    Original URL path: http://huange.org/web6/user/login?destination=forum (2016-02-16)
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  • Forums | Huange Foundation
    password Text Size Increase Normal Decrease Current Size 93 Languages 简体中文 繁體中文 English Home Forums Forums Login to post new content in the forum Forum Topics Posts Last post Discussion about New Research Breakthroughs This forum is reserved to discuss the latest research breakthroughs 3 3 1 year 42 weeks ago by sfan General Discussion Forum This forum is reserved for English speaking members Please post any topic related to

    Original URL path: http://huange.org/web6/forum/22 (2016-02-16)
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  • Forums | Huange Foundation
    new account Request new password Text Size Increase Normal Decrease Current Size 93 Languages 简体中文 繁體中文 English Home Forums Forums Login to post new content in the forum Topic Replies Created Last reply Stem Cell Treatment for Blindness Advances in Human Trials 0 1 year 42 weeks ago by sfan n a Gene Therapy Treats Usher Syndrome Patients 0 3 years 48 weeks ago by admin n a Genable Technologies

    Original URL path: http://huange.org/web6/forum/18 (2016-02-16)
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  • Forums | Huange Foundation
    繁體中文 English Home Forums Forums Login to post new content in the forum Topic Replies Created Last reply QLT Receives Fast Track Designations for QLT091001 to Treat Both Leber Congenital Amaurosis and Retinitis Pigmentosa 0 4 years 22 weeks ago by sfan n a Small molecule treatment holds promise for Usher syndrome 0 4 years 32 weeks ago by admin n a Hong Kong researchers discover how genetic mutations lead

    Original URL path: http://huange.org/web6/forum/10 (2016-02-16)
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