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Molecular biomarkers,network biomarkers,and dynamic network biomarkers for diagnosis and prediction of rare diseases

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Fundamental Research 2022年第6期2卷 894-902页

作者： Shijie Tang Kai Yuan Luonan Chen Key Laboratory of Systems Biology Shanghai Institute of Biochemistry and Cell BiologyCAS Center for Excellence in Molecular Cell ScienceChinese Academy of SciencesShanghai 200031China University of Chinese Academy of Sciences Beijing 100049China Shanghai Mental Health Center Shanghai Jiao Tong University School of MedicineShanghai 200030China Key Laboratory of Systems Health Science of Zhejiang Province School of Life ScienceHangzhou Institute for Advanced StudyUniversity of Chinese Academy of SciencesChinese Academy of SciencesHangzhou 310024China West China Biomedical Big Data Center West China HospitalSichuan UniversityChengdu 610041China

The difficulty of converting scientific research findings into novel pharmacological treatments for rare and life-threatening diseases is *** related to multiple biological processes involved in cell growth,proliferation,and disease occurrence have been identified in recent years with the development of immunology,molecular biology,and genomics *** are capable of reflecting normal physiological processes,pathological processes,and the response to therapeutic intervention;as such,they play vital roles in disease diagnosis,prevention,drug response,and other aspects of *** discovery of valuable biomarkers has become a focal point of current *** studies have identified molecular biomarkers based on the differential expression/concentration of molecules(e.g.,genes/proteins)for disease state diagnosis,characterization,and *** technological breakthroughs in molecular analysis platforms have enabled the identification of a large number of candidate biomarkers for rare diseases,only a small number of these candidates have been properly validated for use in patient *** traditional molecular biomarkers may lose vital information by ignoring molecular associations/interactions,and thus the concept of network biomarkers based on differential associations/correlations of molecule pairs has been *** approach promises to be more stable and reliable in diagnosing disease ***,the newly-emerged dynamic network biomarkers(DNBs)based on differential fluctuations/correlations of molecular groups are able to recognize pre-disease states or critical states instead of disease states,thereby achieving rare disease prediction or predictive/preventative medicine and providing deep insight into the dynamic characteristics of disease initiation and progression.

关键词： Rare disease Molecular biomarker network biomarker Dynamic network biomarker Diagnosis Prognosis Prediction

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