Lipidomics and metabolomics for rare disease diagnosis

用于罕见疾病诊断的脂质组学和代谢组学

• 批准号: MR/Y008057/1
• 负责人: William Griffiths
• 金额: $ 146.2万
• 依托单位: Swansea University
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2023
• 资助国家: 英国
• 起止时间: 2023 至 无数据
• 项目状态: 未结题
• 来源: https://gtr.ukri.org/projects?ref=MR%2FY008057%2F1
• 关键词: Lipidomics; metabolomics; rare; disease; diagnosis

One of the top priorities set out by the UK Rare Diseases Framework is to help patients get a final diagnosis faster. There are an estimated 6,000-8,000 rare diseases, including over 1,000 inborn metabolic disorders. The majority of rare disease patients experience the diagnostic odyssey, including diagnosis delay, misdiagnosis, or no correct diagnosis. Harnessing the power of gene technology for patient care has made a significant advance, but gene sequencing is mostly limited to diagnosing patients with known mutations. To further transform rare disease diagnosis, biochemical methods including metabolomics, and gene sequencing technology need to be developed together and integrated. Clinicians want more global and efficient assays which can identify what is the cause of the medical problem and can rule out other conditions in an initial assessment with a fast turnaround time.UK academic laboratories specialising in mass spectrometry have world-leading expertise in global metabolite analysis, known as metabolomics. Currently this technology is only used in ad hoc research collaborations, and the majority of patients do not directly benefit from such recent technology developments.To address the challenges in rare disease diagnosis, by bringing together, bioanalysts including experts in metabolomics, clinical scientists, clinicians, geneticists, biostatisticians and patient groups, from across the four nations of the UK, our node aims to establish new routes for clinical access to multiplexed lipidomic/metabolomic assays targeted at rare diseases, enabling earlier diagnosis, intervention and improved clinical outcomes.

英国罕见疾病框架的首要任务之一是帮助患者更快地获得最终诊断。估计有6，000 - 8，000种罕见疾病，包括1，000多种先天性代谢紊乱。大多数罕见病患者都经历了诊断的艰难历程，包括诊断延误、误诊或没有正确的诊断。利用基因技术的力量进行患者护理已经取得了重大进展，但基因测序主要限于诊断具有已知突变的患者。为了进一步改变罕见病诊断，包括代谢组学在内的生化方法和基因测序技术需要共同发展和整合。临床医生需要更全面、更高效的检测方法，以确定医疗问题的原因，并在快速的周转时间内在初步评估中排除其他情况。英国专门从事质谱分析的学术实验室在全球代谢物分析（称为代谢组学）方面拥有世界领先的专业知识。目前，这项技术仅用于特别的研究合作，大多数患者并没有直接受益于这些最新的技术发展。为了应对罕见疾病诊断的挑战，通过汇集来自英国四个国家的生物分析师，包括代谢组学专家，临床科学家，临床医生，遗传学家，生物统计学家和患者团体，我们的节点旨在建立新的途径，用于临床获得针对罕见疾病的多重脂质组学/代谢组学分析，从而实现早期诊断，干预和改善临床结果。

项目成果

Role of Bile Acid Pathway Intermediates in Pathology of CTX

胆汁酸途径中间体在 CTX 病理学中的作用

• DOI: 10.5281/zenodo.10050200
• 发表时间: 2023
• 作者: Griffiths W