Lipidomics and metabolomics for rare disease diagnosis

英国罕见病框架制定的首要任务之一是帮助患者更快地得到最终诊断。估计有6 000至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漫长过程，包括诊断延误、误诊或没有正确诊断。利用基因技术的力量进行患者护理已经取得了重大进展，但基因测序主要局限于诊断已知突变的患者。为了进一步转变罕见病的诊断，需要代谢组学等生化方法与基因测序技术的共同发展和融合。临床医生需要更全面、更有效的分析方法，以确定医疗问题的原因，并在快速周转时间的初步评估中排除其他情况。专门从事质谱分析的英国学术实验室在全球代谢物分析方面拥有世界领先的专业知识，被称为代谢组学。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种最新的技术发展。为了应对罕见病诊断方面的挑战，我们汇集了来自英国四个国家的生物分析专家，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群体，我们的节点旨在为临床获得针对罕见病的多重脂质组学/代谢组学分析建立新的途径，从而实现早期诊断、干预和改善临床结果。

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.