PDF(Pubmed)
Abstract：
With the development of clinical experience and technology, rare diseases (RDs) are gradually coming into the limelight. As they often lead to poor prognosis, it is urgent to promote the accuracy and rapidity of diagnosis and promote the development of therapeutic drugs. In recent years, with the rapid improvement of single-cell sequencing technology, the advantages of multi-omics combined application in diseases have been continuously explored. Single-cell metabolomics represents a powerful tool for advancing our understanding of rare diseases, particularly metabolic RDs, and transforming clinical practice. By unraveling the intricacies of cellular metabolism at a single-cell resolution, this innovative approach holds the potential to revolutionize diagnosis, treatment, and management strategies, ultimately improving outcomes for RDs patients. Continued research and technological advancements in single-cell metabolomics are essential for realizing its full potential in the field of RDs diagnosis and therapeutics. It is expected that single-cell metabolomics can be better applied to RDs research in the future, for the benefit of patients and society.
摘要：
随着临床经验和技术的发展,罕见疾病（RD）逐渐成为人们关注的焦点。因为它们往往导致预后不良，迫切需要提高诊断的准确性和快速性，促进治疗药物的发展。近年来,随着单细胞测序技术的快速发展,在疾病中联合应用的优势不断被探索。单细胞代谢组学代表了促进我们对罕见疾病的理解的强大工具，特别是代谢RD，并转变临床实践。通过以单细胞分辨率解开细胞代谢的复杂性，这种创新的方法具有彻底改变诊断的潜力，治疗,和管理策略，最终改善RD患者的预后。单细胞代谢组学的持续研究和技术进步对于实现其在RD诊断和治疗领域的全部潜力至关重要。预计未来单细胞代谢组学可以更好地应用于RD研究,为了患者和社会的利益。
