Edinburgh-St Andrews Consortium for Molecular Pathology, Informatics and Genome Sciences

爱丁堡-圣安德鲁斯分子病理学、信息学和基因组科学联盟

• 批准号: MR/N005902/1
• 负责人: Timothy Aitman
• 金额: $ 253.6万
• 依托单位: University of Edinburgh
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2015
• 资助国家: 英国
• 起止时间: 2015 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=MR%2FN005902%2F1
• 关键词: Edinburgh; St; Andrews; Consortium; Molecular

The human genome project and the technological advances that accompanied it, including the recent advent of the "thousand dollar genome" have opened up new possibilities in medicine, including the opportunities for more precise, molecular diagnoses and personalised treatment based on genome information. The technologies are now at a stage where, with appropriate validation and optimisation, they will soon be moved into routine clinical care to accelerate disease diagnosis and improve patient outcomes. However, to introduce this "step-change" in diagnostics and pathology successfully into the clinic, will require the coordinated action of expertise from multiple fields, including the physical sciences, and training of modern-style pathologists to be familiar with multiple advanced technologies.The Edinburgh-St Andrews Molecular Pathology Node will integrate the proven strengths of the Universities of Edinburgh and St Andrews in molecular pathology and diagnostics (training, development and clinical implementation), image analysis of complex phenotypes and computing, with the breadth of genome medicine and genome sciences experience available within the Universities and NHS Lothian. These strengths include institutes and centres with substantial existing MRC, EPSRC and charitable investment including the MRC Human Genetics Unit, MRC Farr Institute, CRUK Cancer Centre and EPSRC-funded supercomputer and optical imaging facilities. The main aims of the Node will be: (1) training a new generation of molecular pathologists capable of handling modern genome-analysis-aided approaches to diagnosis and treatment of human disease; (2) developing new tests and clinical applications utilizing the advantages of novel technologies; (3) creation of new algorithms, standard operating procedures, data flow schemes and advanced statistical and computational methods that will directly facilitate analysis of the vast and complex data generated by genomics and imaging methods, to implement these new molecular pathology approaches in the clinic. We will focus on areas of clinical need where we believe genome-based assays will most rapidly enter the clinic, particularly the genetic diagnosis of acutely ill children and babies, genetic diagnosis in fetuses with congenital malformations, inherited subtypes of common diseases in adults, and the diagnosis and monitoring of patients with cancer through development of "liquid biopsies" from cell-free DNA in circulating blood.A significant part of the proposed work will be done by practicing clinicians and diagnosticians in the framework of a purpose-designed Masters Research Programme in Molecular Pathology, to which experts in many fields will contribute, including those in the UK National External Quality Assurance Scheme (UK NEQAS) for Molecular Genetics and Pathology, which is based at the Royal Infirmary in Edinburgh. Together with our world-leading partners from the biotechnology and pharmaceutical industry, we will develop and integrate these genome and imaging-based methods to implement new diagnostic methods in healthcare and to produce and sustain a generation of "genomically-skilled" pathologists who will be leaders in the introduction of these methods into routine practice for the next generation of doctors and scientists.

人类基因组计划和随之而来的技术进步，包括最近出现的“千美元基因组”，为医学开辟了新的可能性，包括基于基因组信息进行更精确的分子诊断和个性化治疗的机会。这些技术现在处于这样一个阶段，经过适当的验证和优化，它们很快就会进入常规临床护理，以加快疾病诊断并改善患者结果。然而，要将诊断学和病理学中的这种“阶段性变化”成功地引入临床，将需要包括物理科学在内的多个领域的专业知识的协调行动，以及培训熟悉多种先进技术的现代病理学家。爱丁堡-圣安德鲁斯分子病理学节点将整合爱丁堡大学和圣安德鲁斯大学在分子病理学和诊断(培训、开发和临床实施)、复杂表型的图像分析和计算方面的成熟优势，以及大学和NHS Lothian提供的广泛的基因组医学和基因组科学经验。这些优势包括拥有大量现有MRC、EPSRC和慈善投资的研究所和中心，包括MRC人类遗传学单位、MRC Farr研究所、CRUK癌症中心和EPSRC资助的超级计算机和光学成像设施。该节点的主要目标将是：(1)培训新一代分子病理学家，能够处理现代基因组分析辅助的人类疾病诊断和治疗方法；(2)利用新技术的优势开发新的测试和临床应用；(3)创建新的算法、标准操作程序、数据流方案以及先进的统计和计算方法，这些方法将直接促进分析基因组学和成像方法产生的巨大而复杂的数据，以便在临床上实施这些新的分子病理学方法。我们将专注于我们认为基于基因组的分析将最快进入临床的临床需求领域，特别是对危重儿童和婴儿的基因诊断，对患有先天性畸形的胎儿的基因诊断，成人常见疾病的遗传亚型，以及通过从循环血液中的无细胞DNA发展出“液体活组织检查”来诊断和监测癌症患者。建议的工作的重要部分将由执业临床医生和诊断学家在专门设计的分子病理学硕士研究计划的框架内完成，许多领域的专家将对此做出贡献。包括英国国家分子遗传学和病理学外部质量保证计划(UK NEQAS)中的那些，该计划的总部设在爱丁堡的皇家医务室。我们将与生物技术和制药行业的世界领先合作伙伴一起，开发和整合这些基于基因组和成像的方法，以在医疗保健中实施新的诊断方法，并培养和培养一代具有基因技能的病理学家，他们将带头将这些方法引入下一代医生和科学家的日常实践中。

项目成果

Evaluation of a Novel Single-Tube Method for Extended Genotyping of Human Papillomavirus.

• DOI: 10.1128/jcm.01687-17
• 发表时间: 2018-03
• 期刊: Journal of clinical microbiology
• 影响因子: 9.4
• 作者: Bhatia R;Serrano I;Wennington H;Graham C;Cubie H;Boland E;Fu G;Cuschieri K
• 通讯作者: Cuschieri K

Host chemokine signature as a biomarker for the detection of pre-cancerous cervical lesions.

• DOI: 10.18632/oncotarget.24946
• 发表时间: 2018-04-06
• 期刊: Oncotarget
• 作者: Bhatia R;Kavanagh K;Stewart J;Moncur S;Serrano I;Cong D;Cubie HA;Haas JG;Busby-Earle C;Williams ARW;Howie SEM;Cuschieri K
• 通讯作者: Cuschieri K

Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.

• DOI: 10.1016/j.neurobiolaging.2016.12.013
• 发表时间: 2017-03
• 期刊: Neurobiology of aging
• 影响因子: 4.2
• 作者: Black HA;Leighton DJ;Cleary EM;Rose E;Stephenson L;Colville S;Ross D;Warner J;Porteous M;Gorrie GH;Swingler R;Goldstein D;Harms MB;Connick P;Pal S;Aitman TJ;Chandran S
• 通讯作者: Chandran S

Complement Factor B Is a Determinant of Both Metabolic and Cardiovascular Features of Metabolic Syndrome.

• DOI: 10.1161/hypertensionaha.117.09242
• 发表时间: 2017-07-24
• 期刊: Hypertension (Dallas, Tex. : 1979)
• 作者: Coan PM;Barrier M;Alfazema N;Carter RN;Marion de Procé S;Dopico XC;Garcia Diaz A;Thomson A;Jackson-Jones LH;Moyon B;Webster Z;Ross D;Moss J;Arends MJ;Morton NM;Aitman TJ
• 通讯作者: Aitman TJ

Familial Adrenocortical Carcinoma in Association With Lynch Syndrome.

• DOI: 10.1210/jc.2016-1460
• 发表时间: 2016-06
• 期刊: The Journal of clinical endocrinology and metabolism
• 作者: Challis BG;Kandasamy N;Powlson AS;Koulouri O;Annamalai AK;Happerfield L;Marker AJ;Arends MJ;Nik-Zainal S;Gurnell M
• 通讯作者: Gurnell M