UK Consortium for MetAbolic Phenotyping (MAP UK)

代谢表型是通过观察生物体液（如尿液和血液）和组织的化学成分来研究人类健康的一门学科。先进的技术被用于以无偏“无目标”的方式测量人体样本中数千种代谢物的数量，生成代表个体代谢表型的个体特征（或化学“指纹”）。表型是一个人的基因和许多环境因素影响的产物，包括饮食、生活方式、职业、压力、运动和暴露（例如药物、毒素、污染物等）。表型可以通过直接测量一个人的代谢物来理解和测量，代谢物可以是循环中的代谢物（如血液），局部组织中的代谢物（如肌肉活组织检查），也可以是代谢的最终产物（如尿液）。代谢表型是一项关键的新兴技术，用于增加我们对人类健康和疾病的理解，在预测疾病易感性、发病和恢复潜力方面的应用，以及在需要时指导个性化治疗和临床干预的能力（一个称为“分层医学”的领域）。为了充分发挥其潜力，代谢表型需要许多专业科学领域之间的合作。临床医生、流行病学家和其他希望使用表现型工具来调查特定科学问题（与个人、人群的健康或疾病的潜在化学机制有关）的科学家必须与了解生物流体处理和测量的技术专家和分析化学家、能够理解大量复杂数据的数据科学家（如生物信息学家）以及能够解释这些数据的生物化学家一起工作。有许多不同的方法来提出假设、设计研究、测量生物流体和分析数据，代谢表型是一个专家使用专业工具来回答特定问题的领域。虽然一个人掌握所有这些学科是不现实的，但对整个过程的欣赏对于确保有效利用强大的技术和宝贵的人类样本至关重要，专家之间的沟通对于取得积极和有影响力的研究成果至关重要。考虑到这一点，我们的目标是通过在英国领先的研究机构之间的伙伴关系框架内推动合作、协作开发和教育，为英国科学家的利益推进代谢表型。我们将在专家技术人员、分析化学家和数据科学家之间组织和分享代谢测量和数据分析的专业方法，并提高这些工具对英国研究界的可见性和可用性。我们将听取英国研究界的意见，确定他们的表型需求，并将其与我们合作伙伴关系中潜在的技术/方法解决方案相匹配，以此开始我们的项目。我们将通过跨站点培训确保这些解决方案的可用性，在英国发展强大的研究能力和能力网络。在我们的集体能力存在差距的地方，分析和信息学发展计划将致力于解决这些具体需求，并最大限度地利用表型数据的可获得价值。我们将测试和展示我们的集体能力，将这个新组织的资源转向研究实例应用程序，我们将通过向英国研究界展示我们的工作和统一的表型平台来结束我们的计划。我们将通过对所有用户群体进行外部培训来加强这一周期，以提高对表现型方法的优势、局限性、具体考虑因素和多样性的认识，从而在整个联合王国开展更有效、更有影响力和更高质量的人类健康和疾病研究。

Metabolic phenotyping is the study of human health by observation of the chemical composition of biofluids (e.g. urine and blood) and tissues. Advanced technologies are used to measure the amounts of thousands of metabolites in human samples in an unbiased "untargeted" manner, generating individual profiles (or chemical "fingerprints") that represent the individual's metabolic phenotype. A phenotype is the product of a person's genes and the influence of numerous environmental factors including diet, lifestyle, occupation, stress, exercise, and exposures (e.g. to medications, toxins, pollutants, etc). A phenotype can be understood and measured by direct measurement of a person's metabolites, either in circulation (e.g. in blood), localised to a tissue (e.g. a muscle biopsy), or as the end products of metabolism (e.g. urine). Metabolic phenotyping is key as an emerging technology used to increase our understanding of human health and disease, with applications in the prediction of disease predisposition, onset, and potential for recovery, as well as the power to guide personalised therapies and clinical interventions where needed (a field called "stratified medicine").To be used to its full potential, metabolic phenotyping requires collaboration among many specialist areas of science. Clinicians, epidemiologists, and other scientists who wish to use phenotyping tools to investigate specific scientific questions (related to health in individuals, populations, or the underlying chemical mechanisms of diseases) must work together with technologists and analytical chemists who understand biofluid handling and measurement, data scientists (e.g. bioinformaticians) who can make sense of large amounts of complex data, and biochemists who can interpret that data. With many different ways to raise hypotheses, design studies, measure biofluids, and analyse data, metabolic phenotyping is a field of specialists who use specialist tools to answer specific questions. While it is not practical for one person to master all of these disciplines, an appreciation for the whole process is vital to ensure efficient use of powerful technologies and precious human samples, and communication among specialists is vital to achieving positive and impactful research outcomes. With this in mind, we aim to advance metabolic phenotyping for the benefit of UK scientists by driving cooperation, collaborative development, and education within the framework of a partnership among leading UK research institutions. We will organise and share specialist methods for metabolic measurement and data analysis among expert technologists, analytical chemists, and data scientists, as well as improve the visibility and availability of these tools to the UK research community. We will start our programme by listening to the UK research community, identifying their phenotyping needs and matching them to potential technological/methodological solutions held within our partnership. We will ensure the availability of these solutions by cross-site training, developing a strong network of research capability and capacity within the UK. Where gaps in our collective abilities exist, analytical and informatics development programmes will work to address those specific needs as well as maximise the obtainable value from phenotyping data. We will test and demonstrate our collective abilities by turning this newly organised resource toward the study of example applications, and we will conclude our programme by presenting our work and harmonised platform for phenotyping back to the UK research community. We will augment this cycle with external training of all user groups to raise awareness for the strengths, limitations, specific considerations and diversity of phenotyping approaches, enabling more efficient, more impactful, and higher quality human health and disease research throughout the UK.