Newcastle University Single Cell Functional Genomics Unit (NUSCU)

纽卡斯尔大学单细胞功能基因组学单位 (NUSCU)

• 批准号: MR/M008886/1
• 负责人: Patrick Chinnery
• 金额: $ 21.94万
• 依托单位: Newcastle University
• 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%2FM008886%2F1
• 关键词: Newcastle; University; Single; Cell; Functional

Newcastle University (NU) has a well-established track record studying the molecular basis of rare disease underpinned by unique cohorts of patients with defined phenotypes and biobanked tissue, built through 21 Nationally Commissioned NHS clinical services, which we lead in partnership with the Newcastle upon Tyne Hospitals (NUTH) NHS Foundation Trust. Our work on rare mitochondrial, neuromuscular & musculoskeletal diseases, rare childhood cancers, rare immune deficiencies, and novel cell therapies is renowned internationally, with each receiving substantial centre, fellowship, and programme level support from the MRC, NIHR, Wellcome Trust, European Union, Arthritis Research UK (ARUK), Leukaemia and Lymphoma Research (LLR), and Cancer Research UK (CRUK); >£100M combined since 2008. Over the last two years, each area has independently converged on single cell functional genomics and proteomic approaches to advance our understanding of pathogenesis and thus explain why patients with the same disorder develop different clinical phenotypes, and respond to treatments in different ways. We aim to bring together expertise and infrastructure focused on the genomic, epigenomic, transcriptomic and proteomic characterisation of single cells by forming the Newcastle University Single Cell Functional Genomics Unit (NUSCU). The Unit will be academically led, have a dedicated bioinformatics team and hardware, and interface nationally through the newly established Northern Single Cell Consortium and CyTOF-UK users group. NUSCU will be managed by a dedicated facilities manager funded by NU leading in in-house technical team, building on a successful business model which will lead to self-sustainability within 3-years.

纽卡斯尔大学（NU）在研究罕见疾病的分子基础方面有着良好的记录，这些罕见疾病的分子基础是由具有确定表型和生物库组织的独特患者队列支持的，这些患者队列是通过21个国家委托的NHS临床服务建立的，我们与泰恩河畔纽卡斯尔医院（NUTH）NHS基金会信托合作。我们在罕见的线粒体，神经肌肉和肌肉骨骼疾病，罕见的儿童癌症，罕见的免疫缺陷和新型细胞疗法方面的工作在国际上享有盛誉，每个都得到了MRC，NIHR，Wellcome Trust，欧盟，英国关节炎研究所（ARUK），白血病和淋巴瘤研究所（LLR）和英国癌症研究所（CRUK）的大量中心，奖学金和计划级支持;自2008年以来，总计超过1亿英镑。在过去的两年中，每个领域都独立地集中在单细胞功能基因组学和蛋白质组学方法上，以促进我们对发病机制的理解，从而解释为什么患有相同疾病的患者会出现不同的临床表型，并以不同的方式对治疗作出反应。我们的目标是通过组建纽卡斯尔大学单细胞功能基因组学单位（NUSCU），汇集专注于单细胞基因组学，表观基因组学，转录组学和蛋白质组学表征的专业知识和基础设施。该单位将由学术领导，拥有专门的生物信息学团队和硬件，并通过新成立的北方单细胞联盟和CyTOF-UK用户组进行全国性的接口。NUSCU将由NU资助的专门设施经理管理，领导内部技术团队，建立在成功的商业模式基础上，将在3年内实现自我可持续发展。

项目成果

Implications of mitochondrial DNA mutations in human induced pluripotent stem cells.

• DOI: 10.1038/s41576-021-00430-z
• 发表时间: 2022-03
• 期刊: Nature reviews. Genetics

Heteroplasmic mitochondrial DNA variants in cardiovascular diseases.

心血管疾病中的杂质线粒体DNA变体。

• DOI: 10.1371/journal.pgen.1010068
• 发表时间: 2022-04
• 期刊: PLoS genetics
• 影响因子: 4.5

A role for BCL2L13 and autophagy in germline purifying selection of mtDNA.

• DOI: 10.1371/journal.pgen.1010573
• 发表时间: 2023-01
• 期刊: PLoS genetics
• 影响因子: 4.5

Cell-Free Mitochondrial DNA in Acute Brain Injury.

• DOI: 10.1089/neur.2022.0032
• 发表时间: 2022
• 期刊: NEUROTRAUMA REPORTS
• 影响因子: 2.4
• 作者: Kayhanian, Saeed;Glynos, Angelos;Mair, Richard;Lakatos, Andras;Hutchinson, Peter J. A.;Helmy, Adel E.;Chinnery, Patrick F.
• 通讯作者: Chinnery, Patrick F.

Using hESC-derived retinal organoids to investigate the transcriptional profile of emerging photoreceptors

使用 hESC 衍生的视网膜类器官研究新兴光感受器的转录谱

• 发表时间: 2018
• 期刊: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
• 影响因子: 4.4
• 作者: Collin Joseph