發佈日期：2012/03/08 am10:36:56

內容：
Inherited blindness; New Genetic Testing

Professor Graeme Black, Professor of Genetics and Ophthalmology at Central Manchester University Hospital and Director of the Biomedical Research Centre in Manchester, UK, today announced a unique genetic testing service for patients with inherited blindness at the UK Eye Genetics meeting in Bristol.
The test will give many more patients a definitive diagnosis of their condition and allow some to preserve their sight for longer with directed medical management and new treatments. The new test can analyse more than 100 genes in parallel, compared to fewer than 10 that current tests can scan. The test is based on next generation DNA sequencing technology and advanced computer science and over 700 patients every year will be tested, although there are already plans to increase this if there is demand.
Professor Black said: “This test has been developed and costs driven down to make it as affordable as possible for the NHS. We are working with colleagues to launch a series of genetic test services based on the new technologies to improve the treatment of cancer, heart disease and many other common and rare conditions. Our aim is to make personalised medicine a reality for most NHS patients.”

The service, which will benefit patients across the UK who have been referred to their local clinical genetics service, will allow experts to diagnose conditions such as isolated progressive retinal degeneration, Leber congenital amaurosis, and achromatopsia, as well as the two most common causes of syndromic blindness Usher and Bardet-Biedl syndromes.
Vision charities ‘RP Fighting Blindness’ and ‘Fight for Sight’, as well as an advisory group of patients affected by the conditions, have been central to the development of this service.
David Head, Chief Executive at RP Fighting Blindness said: “This is a big step for these patients. More efficient diagnosis - and thus more accurate prognosis for sight loss - is key to enabling patients to make decisions about their future. We are delighted to have supported Professor Black’s work and seeing the results in terms of direct patient benefit is very satisfying. In addition, efficient genetic testing is very important in progressing research into a cure or treatment, which is our ultimate aim of course.”

20 January 2012

中文簡述：
曼徹斯特大學醫院的遺傳學和眼科教授、英國曼徹斯特的生物醫學研究中心主任，格雷姆•布萊克，今天宣布將在英國布里斯托爾眼科遺傳學會議提供失明患者基因檢測服務。
此一檢測服務將提供患者病情的明確診斷，並允許醫療管理和新的治療方法。新的測試可以並行分析超過100個基因，主要建立在下一代DNA定序技術和先進的計算機科學基礎上，每年將超過700名病人進行測試，若有此方面需求者眾多將會增加計劃的延續性。
布萊克教授說：該基因檢測已開發，加上成本的降低，使得每位英國國民也能負擔得起，再者與同事們推出了一系列新技術為基礎的基因測試服務，也提高了治療癌症，心臟疾病和其他許多常見和罕見的機率。
這項服務將有利於英國各地的患者，如：孤兒病般的視網膜色素病變患者，萊伯氏先天黑蒙症，以及兩個最常見的視網膜色素病變的疾病：尤塞氏綜合症和八比二氏綜合症也都將獲得治療。
對抗RP和對抗視覺受損的視覺障礙非營利組織，以及受以上這些疾病影響患者的諮詢小組，一直以來都以這項服務發展為重心。
因此，對抗RP的非營利組織大衛說：這是一個對這些患者的極大進步，也是更有效的診斷，從而更準確的治療失明 - 是使病人作出有關他們的未來決定的關鍵。我們很高興支持布萊克教授的工作，看到病人的受到幫助的結果是非常令人滿意的。此外，此一基因檢測研究的計畫進展到治癒或治療，這將是我們的最終目的。