Analysis of the tissue and temporal specific role of Eya1 in ear development and its contribution to hearing loss

听力作为人类五种感官之一，不仅对沟通很重要，而且对我们的生活质量和融入社会也很重要，影响着我们的语言和语言技能。在英国，近1100万人（占人口的六分之一）患有耳聋或患有严重的听力障碍，其中45,000名儿童和年轻人患有永久性耳聋。我们之所以能听到声音，是因为耳朵这个独特而复杂的听觉器官。耳朵分为三个部分，外耳（耳廓和耳道），中耳（有三个小骨头）和内耳（毛细胞在内耳感知振动并将信息传递给大脑）。Eya1基因在耳朵的这三个部分都起着重要作用，该基因突变的患者天生就有严重的听力问题。携带相同基因突变的小鼠也会失聪，是研究失聪背后机制的绝佳模型。该建议是通过条件敲除来控制Eya1基因在何时何地丢失来检查Eya1在耳朵每个不同部位的作用。这种分析将提供重要的信息，不仅是关于Eya1在耳朵中的许多作用，而且关于耳朵的不同组织如何聚集在一起并相互影响。这样的研究将是有价值的，当检查患者的耳朵缺陷，特别是在评估缺陷的耳朵的特定组成部分对听力的后果。

Hearing as one of the five human senses is important not only for communication but also for our quality of life and integration into society, impacting on speech and language skills. Almost 11 million people in the UK (1 in 6 of the population) suffer from deafness or experience significant hearing difficulty, with 45,000 children and young people with permanent deafness. We are able to hear due the unique and complex hearing organ that is the ear. The ear is divided into three parts, the external ear (pinna and ear canal), middle ear, with its three little bones, and inner ear, where the hair cells sense vibrations and transfer information to the brain. The gene Eya1 plays an important role in each of these three part of the ear and patients with mutations in this gene are born with severe hearing problems. Mice with mutations in the same gene are also deaf and are excellent models for learning about the mechanisms behind deafness. This proposal is to examine the role of Eya1 in each of the different parts of the ear using a conditional knockout to control when and where the Eya1 gene is lost. Such analysis will provide important information, not only on the many roles of Eya1 in the ear, but also on how the different tissues of the ear come together and influence each other. Such research will be valuable when examining patients with ear defects, particularly in assessing the consequence of defects in specific components of the ear on hearing.