Genetic causes of congenital anosmia

先天性嗅觉丧失的遗传原因

基本信息

批准号：
9436787
负责人：
Joel D Mainland
金额：
$ 23.1万
依托单位：
MONELL CHEMICAL SENSES CENTER
依托单位国家：
美国
项目类别：
财政年份：
2017
资助国家：
美国
起止时间：
2017-12-01 至 2019-11-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9436787
关键词：
Affect American Anosmia Anxiety Attention Beverages Biological Models Blindness Candidate Disease Gene Chronic Cues Data Databases Development Diagnosis Disease Environment Environmental Hazards Etiology Family Family member Feeling Food Functional disorder Gene Expression Profiling Genes Genetic Goals Health Hearing Human In Vitro Individual Knowledge Lead Methods Molecular Mutate Mutation Olfactory Pathways Pathway Analysis Patient Recruitments Patients Prevalence Quality of life Reporting Research Research Personnel Sensory Signal Transduction Sinus Smell Perception Symptoms Syndrome Variant Vision Work base cohort congenital deafness deafness exome sequencing experience experimental study food flavor gene therapy genetic linkage analysis improved in vivo Model insight member olfactory disorder outcome forecast patient outreach prevent programs recruit social therapeutic development

项目摘要

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.

项目概要与其他感觉缺陷相比，嗅觉障碍等嗅觉障碍很少受到关注。识别导致失明和耳聋的基因改变对于基因的发育至关重要针对这两种疾病的疗法，即用有效基因替换有缺陷的基因。超过100个改变的基因已在出生时失聪的患者中发现了 200 多个基因与出生时的患者有关没有视力。这些数字与先天性嗅觉缺失症相关的基因数量形成鲜明对比。迄今为止，研究人员仅发现了两种与先天性嗅觉丧失相关的基因。我们缺乏对先天性嗅觉缺失症的了解使许多嗅觉缺失症患者不知道自己的情况是后天性的还是后天性的遗传性、暂时性或永久性的，使他们几乎没有诊断和治疗的希望。该项目将招募患有先天性嗅觉缺失症的患者，并使用外显子组测序来识别导致这种疾病的基因。