HTS - Maximising the value of MRC Brain Banks

HTS - 最大化 MRC 脑库的价值

• 批准号: MC_PC_13044
• 负责人: Patrick Chinnery
• 金额: $ 219.28万
• 依托单位: University of Edinburgh
• 依托单位国家: 英国
• 项目类别: Intramural
• 财政年份: 2013
• 资助国家: 英国
• 起止时间: 2013 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=MC_PC_13044
• 关键词: HTS; Maximising; value; MRC; Brain

The aim of this study to maximise the value of the brain tissue samples available to the research community in the four MRC-funded brain banks by the systematic analysis and integration of data from genomic studies on cases currently available for research in the banks. . All MRC brain banks have ethics approval to function as tissue banks and to collect, store and release tissue samples and data from consented donors. Consent/authorisation for genetic research is recorded and will be used to identify cases for inclusion in this study. Governance mechanisms include local NHS governance, Human Tissue Authority licences and Healthcare Improvement Scotland accreditation, along with MRC policies on research governance.This study will involve the investigation of normal brains from a wide age range and brains from well-characterised disease cohorts in the MRC brain banks. We aim to genetically characterise 1500 representative brains with Alzheimer disease, dementia with Lewy bodies /Parkinson disease, vascular dementia, frontotemporal dementia/motor neurone disease, Creutzfeldt-Jakob disease and controls. The data generated will greatly enrich the clinical and neuropathological data currently associated with these samples. This work will therefore provide major added value to the exiting brain banks, opening up totally new opportunities for mechanistic and translational research in neurodegeneration and brain aging.

本研究的目的是通过系统分析和整合目前可供脑库研究的病例的基因组研究数据，最大限度地发挥MRC资助的四个脑库中研究界可用的脑组织样本的价值。.所有MRC脑库都有伦理批准，可以作为组织库，收集、储存和发布来自同意捐赠者的组织样本和数据。记录遗传研究的知情同意/授权，并将用于确定纳入本研究的病例。治理机制包括当地NHS治理，人体组织管理局许可证和医疗保健改善苏格兰认证，沿着MRC政策的研究government.This研究将涉及调查的正常大脑从广泛的年龄范围和大脑的MRC脑库中的特征明确的疾病队列。我们的目标是从遗传学上研究1500例阿尔茨海默病、路易体痴呆/帕金森病、血管性痴呆、额颞叶痴呆/运动神经元疾病、克雅氏病和对照组的代表性大脑。生成的数据将极大地丰富目前与这些样本相关的临床和神经病理学数据。因此，这项工作将为现有的大脑银行提供重要的附加值，为神经变性和大脑老化的机制和转化研究开辟全新的机会。

项目成果

Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

• DOI: 10.1136/jnnp-2017-317234
• 发表时间: 2018-08
• 期刊: Journal of neurology, neurosurgery, and psychiatry
• 作者: Keogh MJ;Wei W;Aryaman J;Wilson I;Talbot K;Turner MR;McKenzie CA;Troakes C;Attems J;Smith C;Al Sarraj S;Morris CM;Ansorge O;Pickering-Brown S;Jones N;Ironside JW;Chinnery PF
• 通讯作者: Chinnery PF

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

• DOI: 10.1101/gr.210609.116
• 发表时间: 2017-01
• 期刊: Genome research
• 影响因子: 7
• 作者: Keogh MJ;Wei W;Wilson I;Coxhead J;Ryan S;Rollinson S;Griffin H;Kurzawa-Akanbi M;Santibanez-Koref M;Talbot K;Turner MR;McKenzie CA;Troakes C;Attems J;Smith C;Al Sarraj S;Morris CM;Ansorge O;Pickering-Brown S;Ironside JW;Chinnery PF
• 通讯作者: Chinnery PF

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.

• DOI: 10.1186/s40478-016-0404-6
• 发表时间: 2017-02-02
• 期刊: Acta neuropathologica communications
• 影响因子: 7.1
• 作者: Wei W;Keogh MJ;Wilson I;Coxhead J;Ryan S;Rollinson S;Griffin H;Kurzawa-Akanbi M;Santibanez-Koref M;Talbot K;Turner MR;McKenzie CA;Troakes C;Attems J;Smith C;Al Sarraj S;Morris CM;Ansorge O;Pickering-Brown S;Ironside JW;Chinnery PF
• 通讯作者: Chinnery PF