A comprehensive clinical and experimental approach to personalized molecular medicine in patients with defined and undefined autoinflammatory disorders

针对明确和未明确自身炎症性疾病患者的个性化分子医学的综合临床和实验方法

• 批准号: 314141582
• 负责人: Professor Dr. Dirk Föll
• 金额: --
• 依托单位: Klinik für Rheumatologie und klinischen Immunologie
• 依托单位国家: 德国
• 项目类别: Research Grants
• 财政年份: 2016
• 资助国家: 德国
• 起止时间: 2015-12-31 至 2018-12-31
• 项目状态: 已结题
• 来源: https://gepris.dfg.de/gepris/projekt/314141582?language=en
• 关键词: comprehensive; clinical; experimental; approach; personalized

Systemic AutoInflammatory Diseases (SAID) are a growing number of monogenic and multifactorial conditions secondary to deregulation of mechanisms controlling innate immune responses and characterized by sterile inflammation. So far, formal diagnostic criteria have been developed only for a few SAID, but their accuracy has not been confirmed in different ages and populations. In spite of our increasing understanding of the molecular mechanisms of SAIDs, there is still a large number of individuals with a clinical diagnosis but without mutations in known disease causing genes. This project includes three essential ingredients: i) well-characterized valuable patient material, ii) a state of the art genomic approach and iii) integration of different functional assays for the identification of novel intracellular pathways possibly involved in the pathogenesis of SAIDs. This is going to make the present project the most promising approach for the identification of causal DNA variants, new genes and biomarkers in genetically orphan SAID patients, and novel possible targets for more effective treatments (personalized medicine).

系统性自身炎症性疾病（SAID）是继发于控制先天免疫应答的机制失调的越来越多的单基因和多因素病症，其特征在于无菌性炎症。到目前为止，仅为少数SAID制定了正式的诊断标准，但其准确性尚未在不同年龄和人群中得到证实。尽管我们越来越了解SAID的分子机制，但仍有大量的个体具有临床诊断，但在已知的致病基因中没有突变。该项目包括三个基本成分：i）充分表征的有价值的患者材料，ii）最先进的基因组方法和iii）整合不同的功能测定，用于鉴定可能参与SAID发病机制的新型细胞内途径。这将使本项目成为最有前途的方法，用于鉴定遗传孤儿SAID患者中的致病DNA变体，新基因和生物标志物，以及更有效治疗（个性化医疗）的新的可能靶点。