Discovery and translation in rare and common inflammatory childhood disease

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。

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.