转化医学是一种新的生物医学研究和应用模式, 强调“从床旁到实验室再到床旁”的联接, 通过将基础医学研究成果转化为临床应用的工具, 使其在疾病预防、诊断、个体化治疗和预后等各个环节发挥重要作用。清华大学利用自身在生物芯片、系统生物学、化学、微电子工程、精密仪器等方面的学科优势, 从临床医院的实际需求出发, 通过实验室研究提出解决方案, 再与生物医学企业合作将科研成果转化为产品, 最后将产品回馈应用于临床, 探索出一条从“临床需求-高校研发-企业转化-临床应用”的成功途径。经过近十年的实践, 目前已有部分科研产品获得成功转化并应用到遗传病诊断、感染性疾病诊断、自身免疫性疾病诊断、肿瘤早期诊断和转移评价、辅助生殖、生物医学仪器研制等众多领域。

无论是从病因学还是从临床特征上看, 精神分裂症都为最复杂的一种精神疾病。然而, 经过多年对其的研究, 在发病机制方面仍未能取得突破性进展。近年来越来越受到关注的转化医学无疑将会为解决精神分裂症的临床医疗问题注入一剂强心剂, 将会着重体现在对疾病的个体化诊断与治疗、早期识别与干预、环境因素的作用与鉴别等方面, 以及用多学科交叉研究手段加深对疾病的综合治理。针对这些内容, 本文就中国精神分裂症转化医学的研究现状及今后的发展做一概述。

Schizophrenia is one of the most complex psychotic disorders. Despite years of research, the fundamental nature of schizophrenia remains elusive. Recently, advances in the translational research make researchers begin to rethink the approaches they used for schizophrenia. The basic research which has been focusing on genetic mechanism is turning to integrate the need of clinical diagnosis and treatment. Research emphasis thus will be put on the study of early diagnosis, personalized treatment, environmental risks identification and prevention of schizophrenia. This review will introduce the recent advances and future studies of translational research of schizophrenia in China in these aspects.

Translational medicine is a newly emerging concept which emphasizes a link from “Bedside to Bench and back to Bedside”. It plays an important role in disease diagnosis and prevention, individualized treatment and prognosis evaluation through the translation of basic research achievements to clinical solutions. Using the advantages of biochip technology, systems biology, chemistry, micro-electronics, precision instruments and mechanology, and collaborating closely with leading clinical hospitals, Tsinghua University has established a new transformative model to link “Clinical Demands - Research in Universities or Institutions - Enterprise Transformation - Clinical Application”. After ten years of practice, great progress in translational medicine has been achieved in diverse medical fields including the diagnosis of hereditary diseases, infectious diseases, autoimmune diseases, early diagnosis for cervical cancer and risk prediction of distant metastasis for breast cancer, assisted reproductive technology and biomedical instrument development.

Personalized medicine is defined as “a form of medicine that uses information about a person's genes, proteins, and environment to prevent, diagnose, and treat disease” by the U.S. National Cancer Institute. The applications of personalized medicine in cancer is broad, including: evaluating the risk of developing a particular type of cancer and selecting screening strategies to lower this risk; Matching the right patients with the appropriate treatments that are more likely to be effective and reducing side effects by targeting treatment to each individual patient; Predicting the risk of recurrence and providing strategies to identify the patients who would benefit from adjuvant therapy. With the help of advanced knowledge of molecular oncology and development of new technologies, such as whole genome sequencing, SNPs analysis, DNA-microarray technology, proteomics by mass spectrometry and bioinformatics, patients may receive more effective tailored therapy that targeting the specific tumor. Although many challenges still remain, it is clear that personalized medicine will dramatically change the cancer therapy in the near future.

美国国立癌症研究中心将个体化医学定义为：“一种运用个体基因、蛋白以及环境信息来预防、诊断及治疗疾病的医药。”个体化医学在肿瘤治疗中的应用非常广泛, 其中包括：评估可能罹患某种肿瘤的风险并选择相应的筛查方法来降低这种风险；针对特定的患者给予恰当的治疗方法, 以提高效率并减少副作用；预测肿瘤复发的风险并鉴定需要辅助治疗的患者。在逐渐积累的分子肿瘤学知识以及不断进步的新技术（基因组测序、SNPs分析、DNA芯片技术、基于质谱鉴定的蛋白质组学以及生物信息学分析等）帮助下, 患者们能得到针对某种特定肿瘤的更加高效的治疗。尽管个体化医学仍面临一些挑战, 但在不久的将来它必定会极大的改善肿瘤治疗。