Annual Report 2014–15

破解粉塵蟎基因組 中大醫學院聯同深圳大學醫學院及廣 州呼吸疾病國家重點實驗室，在全球 率先破解粉塵蟎（塵蟎品種之一）基因 組草圖及其腸道中的微生物成分。 由生物醫學學院徐國榮教授領導的研 究團隊，透過吸入性過敏病人血清的 驗證，在粉塵蟎的基因中發現八個新 的致敏原，其中一個更獲世界衞生組 織免疫學學會致敏原小組委員會命名 為Der f24致敏原。研究人員亦在粉 塵蟎的身體及腸道內偵測到多種從未 被發現的細菌，其中以腸桿菌佔的比 例最高。這些細菌極有可能透過粉塵 蟎的排泄物成為吸入性過敏疾病的致 敏原，這個發現有望為吸入性過敏疾病 提供診斷及治療新方向。 有關研究成果已在2015年2月發表於 《致敏及臨床免疲學期刊》。 發現新的小腦萎縮症變異基因 生命科學學院陳浩然教授（左二）領 導的跨學科研究小組，找出了一組新 的脊髓小腦性共濟失調（簡稱小腦萎 縮症或SCA）致病變異基因。 SCA是導致小腦細胞逐步死亡的慢性 遺傳疾病。2011年，陳教授及其團 隊開展跨學科研究計劃，分析SCA患 病家庭成員的基因排序，經過三年努 力，終於發現其中一個SCA家庭的變 異基因，乃處於一個名為CCDC88C 的基因上，國際人類基因組組織的基 因命名委員會接受陳教授團隊的申 請，批准以「SCA40」命名這種新型 小腦萎縮症。 此發現有助醫學遺傳專家進行遺傳 化驗，並為病人進行輔導，開拓治療 SCA的新方向。研究成果在2014年9月 刊於《醫學遺傳學期刊》。 Unveiling Genome of Dust Mite The CUHK Faculty of Medicine, together with the Shenzhen University School of Medicine and the State Key Laboratory of Respiratory Disease in Guangzhou, made a ground-breaking discovery about the draft genome of Dermatophagoides (D.) farinae (one of several dust mite species) and the microbiota components inside their gut. Through the verification of serum collected from allergy patients, the joint research team led by Prof. Tsui Kwok-wing Stephen, School of Biomedical Sciences, discovered eight novel allergens from the D. farinae genome. One of these newly found allergens has been named Der f24 with the approval of the Allergen Nomenclature Sub-committee of the World Health Organization and the International Union of Immunological Societies. Varieties of bacteria which have not been reported as dust mite-related were detected in the body and gut of D. farinae , in particular, the Enterobacter . These residential bacteria inside D. farinae are potential allergens that induce inhalant allergy after they are excreted. It is very probable that this discovery will cast new light on the diagnosis of and interventions in inhalant allergies. The research result have been published in the Journal of Allergy and Clinical Immundogy in February 2015. Discovery of Gene Mutation Causing a Novel Form of Spinocerebellar Ataxia A multi-disciplinary research team led by Prof. Chan Ho-yin Edwin ( 2nd left ) of the School of Life Sciences identified a novel genetic mutation that leads to spinocerebellar ataxia (SCA). SCAs refer to a group of genetic diseases that cause progressive deterioration of the nervous system, particularly the cerebellum (referred to as ‘small brain’). In 2011, Professor Chan and his team embarked on a cross-disciplinary study with the aim of unveiling the underlying cause of a familial form of SCA identified in the local population. By means of next generation sequencing, the team first tracked down candidate disease-causing polymorphisms in the patients’ genomes. With a concerted experimental and bioinformatic effort, the researchers finally confined the SCA 22 開拓人類知識的版圖 Pushing Knowledge Frontiers