Discovery and translation in rare and common inflammatory childhood disease

罕见和常见炎症性儿童疾病的发现和转化

• 批准号: 242816456
• 负责人: Dr. Manuela Pigors
• 金额: --
• 依托单位: Klinik für Dermatologie und Venerologie
• 依托单位国家: 德国
• 项目类别: Research Fellowships
• 财政年份: 2013
• 资助国家: 德国
• 起止时间: 2012-12-31 至 2015-12-31
• 项目状态: 已结题
• 来源: https://gepris.dfg.de/gepris/projekt/242816456?language=en
• 关键词: Discovery; translation; rare; common; inflammatory

Inflammatory skin diseases are clinically and genetically complex and the underlying disease causes are largely unknown. These disorders are particularly difficult to understand because of the interaction of genetic and environmental factors, and considerable variability in clinical severity among patients and their affected family members. Current treatment relieves itch and redness but is not a cure and often involves undesirable side effects. In this proposal, we use modern DNA sequencing techniques to disclose the causes of both common and rare skin inflammatory childhood diseases in large numbers of patient. Cells derived from patients skin and artificial skin models will be used to study the cause of these defective proteins. Understanding the role of the new proteins in the organisation of the skin and in inflammation will open new possibilities for novel therapeutic approaches for treatment of those complicated and distressing disorders.

炎症性皮肤病在临床和遗传上是复杂的，潜在的疾病原因很大程度上是未知的。这些疾病尤其难以理解，因为遗传和环境因素的相互作用，以及患者及其受影响家庭成员临床严重程度的相当大差异。目前的治疗方法可以缓解瘙痒和发红，但并不能治愈，而且往往会产生不良副作用。在这项建议中，我们使用现代DNA测序技术来揭示大量患者中常见和罕见的儿童皮肤炎性疾病的原因。来自患者皮肤和人造皮肤模型的细胞将被用来研究这些缺陷蛋白质的原因。了解新蛋白质在皮肤组织和炎症中的作用，将为治疗这些复杂和令人痛苦的疾病的新的治疗方法打开新的可能性。

项目成果

Cover image: Unpeeling the layers of harlequin ichthyosis

封面图片：剥开丑角鱼鳞病的层层剥落

• DOI: 10.1111/bjd.14469
• 发表时间: 2016
• 期刊: British Journal of Dermatology
• 影响因子: 10.3
• 作者: Harris AG;Choy C;Pigors M;Kelsell DP;Murrell DF
• 通讯作者: Murrell DF