我们来看看我们的牛亲戚在做啥，对我们的未来有多重要：
Andy is joint head of the Institute’s Cancer Genome Project. His focus is on the molecular genetics of cancer and the identification of cancer-causing genes.
Andy's research interests are in investigating the molecular genetics of human disease, most specifically focused on cancer.
His work before coming to Wellcome Trust Sanger Institute was most heavily focused on identification of susceptibility genes for breast and ovarian cancers and on characterising somatic genetic alterations in breast cancer and gynaecologic malignancies. In addition to the main focus of work in the Cancer Genome Project on identification of somatic mutations in human cancer via large-scale genomic approaches, other interests included the application of molecular genetics to potential elucidation of therapeutic targets in cancer, the potential role of somatic genetics in patient stratification to conventional cancer therapies and the functional investigation of mutations identified in the Cancer Genome Project.
Additionally, Andy has an ongoing interest in other human disease gene identification, in particular for X-linked diseases - currently under study in the lab. With regards to the X-linked disease project, the team has, to date, identified iDLG3, ZDHHC9, CUL4B, AP1S2, MED12, and RPS6KA3 as novel genes for X-linked mental retardation; FRMD7 mutations as causal in congenital nystagmus; and mutations in the EDA gene in X-linked dominant incisor hypodontia. In addition, Andy is interested in developing our platforms for investigating the genetic aetiology of rare, essentially orphan, monogenic disorders.
The Cancer Genome Project has been running now for seven years. In this time, the project has pioneered the use of large-scale exon resequencing as an approach to identifying cancer genes in various tumour types as exemplified by BRAF mutations in melanoma; colorectal and other cancers; ERBB2 mutations in non small-cell lung carcinoma; variant KRAS mutations in colorectal cancer; FBXW7 and PTEN mutations in T-cell acute lymphoblastic leukaemias.
In addition, these efforts have begun to elucidate the complexity of cancer genomes at the sequence level and provided substantial evidence for there being a likely large number of relatively infrequently mutated genes which are contributing to cancer development. An example of this would be the contribution of FGFR2 point mutations in a variety of cancer types. All of these efforts will hopefully identify those genes and pathways which can be investigated for potential therapeutic exploitation. These efforts are also providing a solid base for developing larger-scale screens for mutations and, importantly, providing the framework for approaches that aim to re-sequence entire cancer genomes eventually providing for a nearly complete assessment of the complexity, challenges and potential opportunities to go from cancer genetics to cancer treatment.
安迪是本研究所癌症基因组项目的联合负责人，他主要研究癌症的分子遗传学和鉴定致癌基因。
安迪的兴趣是研究人类疾病特别是癌症的分子遗传学。
在加入Sanger研究所之前，安迪的工作主要集中在鉴定乳腺癌与卵巢癌的易感基因和鉴定乳腺癌、妇科恶性肿瘤的体细胞遗传改变。除了在癌症基因组项目中通过大规模基因组学途径鉴定癌症的体细胞突变外，他的研究还包括应用分子遗传手段进行癌症治疗的可能机理、体细胞遗传学在传统癌症治疗的作用，以及在癌症基因组项目中所鉴定突变的功能分析。另外，安迪正在实验室内开展的研究是关于人类疾病的基因鉴定，尤其是人类X-染色体边锁疾病。关于X-染色体连锁疾病，该团队迄今已经鉴定了iDLG3、ZDHHC9、CUL4B、AP1S2、MED12和RPS6KA3等与X连锁
智障相关的新基因，证明了FRMD7基因实变是导致先天性眼球震颤的原因、EDA基因突变导致的X连锁显性门齿发育不全。另外，安迪建立了我们研究罕见甚至是孤例的单基因功能失常的遗传病因学的研究平台。
癌症基因组项目已经运行了7年，这此期间，项目组率先将大规模外显子测序技术应用于鉴定各种类型肿瘤的致癌基因，例如：色素瘤和结直肠癌等其它癌症的BRAF基因突变、非小细胞肺癌中的ERBB2基因突变、结直肠癌中的各种KRAS基因突变、T细胞急性淋巴母细胞白血病中的FBXW7和PTEN基因突变等。
此外，这些研究开始阐明了癌症基因组在DNA序列水平上的复杂性，为数量众多的低频率突变基因导致癌症发生发展的理论提供了坚实的证据。其中一个例子是FGFR2基因的点突变所导致的多种类型的癌症。所有这些努力将有望鉴定致癌基因与调控途径并应用于基因治疗研究。这些研究也为发展大规模地的突变筛选奠定了坚实的基础，更重要的是为癌症全基因组重新测序提供了框架，并为最终完全阐明癌症的复杂性与挑战性、从癌症遗传学走向癌症治疗的可能机会奠定了基础。
名词解释：如果同学们需要对某些内容解释，可以提出来。
体细胞：
X-连锁
外显子
点突变
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对人类遗传学特别是疾病不是很懂啊！请沧桑、清心、水鱼和其他同学指正。
俺本人还是从这一段简介中学到了很多东西，原来没有想到癌症会牵扯到这么多基因的突变，而且突变类型复杂，简介里没有提到但NATURE文章摘要中提到的还有体细胞基因DNA重排（俺原来只知道B细胞产生抗体过程中的复杂重排过程）和跨染色体的DNA重排。
总之，长见识了。明年给学生上课的时候，可以引用这些新的研究成果介绍一下。
[ 此贴被伍胥之在2010-02-04 04:15重新编辑 ]
