Genetic causes of congenital anosmia

项目总结 与其他感觉缺陷相比，嗅觉障碍等嗅觉障碍几乎没有受到关注。识别 导致失明和耳聋的基因改变对基因的发育至关重要 针对这两种疾病的治疗方法是将有缺陷的基因替换为有效的基因。超过100个基因发生了变化 已在先天失聪的患者中发现，超过200个基因与先天失聪的患者有关 看不见。这些数字与先天性嗅觉障碍所涉及的基因数量形成鲜明对比； 到目前为止，研究人员只发现了两个与先天性嗅觉丧失有关的基因。我们缺少的是 了解先天性嗅觉障碍可以防止许多嗅觉障碍患者知道他们的情况是后天的还是后天的 遗传性的，临时性的或永久性的，使他们对诊断和治疗几乎没有希望。这个项目将 招募先天性嗅觉缺失症患者，并使用外显子组测序来识别这种疾病的潜在基因。

PROJECT SUMMARY Olfactory disorders such as anosmia have received little attention relative to other sensory deficits. Identifying genetic alterations that lead to blindness and deafness has been critically important for developing gene therapies, in which a faulty gene is replaced with a working one, for both disorders. Over 100 altered genes have been discovered in patients born without hearing and over 200 genes are implicated in patients born without sight. These numbers are in stark contrast to the number of genes implicated in congenital anosmia; to date, researchers have identified only two genes associated with congenital smell loss. Our lack of understanding of congenital anosmia prevents many anosmics from knowing if their condition is acquired or genetic, temporary or permanent, and provides them little hope for diagnosis and treatment. This project will recruit patients with congenital anosmia and use exome sequencing to identify genes underlying this disorder.