基于药物基因组学和临床特征的癫痫个性化治疗研究

Epilepsy is a complex disease which has a high genetic heterogeneity, multi-type and great individual differences between drug reactions and curative effects. Now, the antiepileptic drugs therapy is the most favorite method used in clinical patients. But there are significant differences between the curative effectt and the side effect.Both traditional method and method based on pharmacogenomics can not achieve disirable personal therapy effect. Clinical case characteristics, personal physiological factor, environmental factor, clinical drugs and genetic factor, all of these influence the response for AEDS. The studies have demonstrated that genetic factor is the most important among these factors. The study is to search personal combination prescription of markers (clinical marker and genetic marker) based on pharmacogenomics and clinical experience. Then we will study personal therapy for epilepsy based on these results.The purpose is to obtain combination prescription of markers(genetic marker and clinical marker) for personal therapy of epilepsy . The results will provide desirable personal therapy method for epilepsy and the theory for other disease.

癫痫是一种高度遗传异质性、类型多样、药物反应和疗效个体差异大的复杂疾病。实践证明，单纯依据临床病理特征所采用传统给药方式或仅侧重于依据现行癫痫用药指南的给药方案，均难以实现"对人下药"，产生满意的个性化治疗效果。抗癫痫药物（AEDS）的疗效与反应受到临床病例特征、个人生理因素、环境、AEDS用药因素和遗传因素等多种因素的综合影响，其中遗传因素最为关键。本研究基于已经构建的大样本癫痫病例随访队列，设计前瞻性纵向监测与常规临床治疗相结合的病例随访与干预队列，采用药物基因组学与临床治疗经验相结合方法，构建基于遗传标记及临床标记的癫痫个性化"标记组合处方"。在此基础上，客观评价多个基因对ADES疗效与反应的综合影响，探讨基因导向癫痫个性化治疗的可行性。预期目标的实现，不仅可以获得产生满意AEDS个体化治疗效果的"标记组合处方"和癫痫个性化治疗策略，而且可为其它复杂疾病的个性化治疗提供理论方法。