GENETIC AND GENOMIC CONTRIBUTION TO BALANCE AND HEARING PROBLEMS IN ADULTS

遗传和基因组对成人平衡和听力问题的影响

基本信息

批准号：
9235270
负责人：
Yunxia Wang Lundberg
金额：
$ 17.59万
依托单位：
FATHER FLANAGAN'S BOYS' HOME
依托单位国家：
美国
项目类别：
财政年份：
2016
资助国家：
美国
起止时间：
2016-04-01 至 2018-03-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9235270
关键词：
Adult Affect Animal Experimentation Animals Area Austria Award Benign paroxysmal positional vertigo Biology Budgets Candidate Disease Gene Career Mobility Collaborations Complex Computer software Consultations DNA Sequence Alteration Data Set Development Diagnosis Disease Dislocations Elements Equilibrium Equipment Etiology Family Functional disorder Future Gene Proteins Gene Targeting Generations Genes Genetic Genetic Heterogeneity Genetic Research Genetic study Genomics Genotype Goals Hearing problem Hereditary Disease High Prevalence Histology Hospitals Human Human Genetics Individual K-18 conjugate Laboratories Learning Maintenance Manuscripts Massive Parallel Sequencing Medicine Methods Molecular Mus Mutation Nature Nebraska Onset of illness Pathway interactions Patients Phenotype Positioning Attribute Predisposition Presbycusis Protein Biochemistry Recurrence Relative Risks Research Research Training Semicircular canal structure Severities Single Nucleotide Polymorphism Source Specialized Center System Techniques Technology Testing Time Training Training Programs Translating Translational Research Universities Utricle structure Variant Vertigo base boys career case control clinical application college deafness exome experience genetic linkage analysis genetic variant hearing impairment human subject member mutant next generation sequencing non-genetic novel otoconia power analysis public health relevance research clinical testing tool translational study

项目摘要

DESCRIPTION (provided by applicant): This career transitioning project will provide the opportunity, protected time and training for the PI to learn new techniques to translate findings i otoconia biology obtained by animal research to human cases of benign paroxysmal positional vertigo (BPPV) and other otoconial dysfunction. BPPV is the most common cause of vertigo in humans, but the molecular etiology is unknown. My laboratory has been systematically studying molecular mechanisms of otoconia formation, anchoring and maintenance in mice using protein biochemistry, gene targeting, histology (including ultrastructure), and other molecular and cellular techniques. Building on my prior research experience in mouse genetics, I propose to learn cutting-edge genetic and genomic technologies to identify genetic variants or mutations in otoconial genes that may cause or exacerbate recurrent BPPV in patients, with and without hearing loss. In addition, I will learn linkage analysis using familial BPPV cases. Given the high prevalence and debilitating nature of recurrent BPPV and other otoconial dysfunction, often dually inflicted by age-related hearing loss, these types of genetic and translational studies are overdue.

描述（由申请人提供）：该职业转型项目将为 PI 提供机会、受保护的时间和培训，以学习新技术，将动物研究获得的耳石生物学发现转化为良性阵发性位置性眩晕 (BPPV) 和其他人类病例耳石功能障碍是人类眩晕的最常见原因，但其分子病因尚不清楚，我的实验室一直在系统地研究耳石形成、锚定和定位的分子机制。基于我之前在小鼠遗传学方面的研究经验，我建议学习尖端的遗传和基因组技术来识别遗传变异或突变。此外，考虑到复发性 BPPV 和其他疾病的高患病率和使人衰弱的性质，我将学习使用家族性 BPPV 病例进行连锁分析。耳圆锥功能障碍通常是由与年龄相关的听力损失双重造成的，这些类型的遗传和转化研究早就该进行了。