The Otopathology of Hearing Loss: Genotype-Phenotype Correlation in Human TB

听力损失的耳病理学：人类结核病的基因型与表型相关性

基本信息

批准号：
8914407
负责人：
Akira Ishiyama
金额：
$ 42.59万
依托单位：
UNIVERSITY OF CALIFORNIA LOS ANGELES
依托单位国家：
美国
项目类别：
财政年份：
2011
资助国家：
美国
起止时间：
2011-09-01 至 2016-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8914407
关键词：
Acoustic Neuroma Area Auditory Biocompatible Materials Biological Biopsy Bone Banks California Cataloging Catalogs Clinical Data Collaborations Collection Communication Correlation Studies Counseling DNA DNA Sequence Alteration Data Data Analyses Databases Disease Disease Progression Ear Education Etiology Eye Funding Future Genes Genetic Genetic Counseling Genetic Screening Genotype Goals Hearing Hearing problem Hereditary Disease Housing Human Inherited Institutes Knowledge Labyrinth Link Massachusetts Meniere&apos s Disease Minnesota Molecular National Institute on Deafness and Other Communication Disorders Nerve Neurosciences Otosclerosis Outcome Patients Pattern Phenotype Population Principal Investigator Process Proteins Registries Reporting Research Research Personnel Resources Sensorineural Hearing Loss Severity of illness Source Structure Techniques Temporal bone structure Testing Training Training Programs Universities base bone clinically relevant design genetic disorder diagnosis genetic variant genome wide association study hearing impairment improved indexing inner ear diseases member outreach

项目摘要

DESCRIPTION (provided by applicant): Correlating otopathological analysis with genetic screening for existing syndromic and non-syndromic inner ear diseases is the goal of the House Ear Institute's contribution to the NIDCD's Otopathology Research Collaboration Network. The value of these correlations lies in connecting genetic diagnosis with a better understanding of disease progression and pathological sequelae, as well as the identification of targets for future treatment and, importantly, improved genetic counseling. Because of an almost complete lack of human biopsy material associated with inner ear disease, such connections remain largely unknown, and the only source of this information is the existing post-mortem temporal bone collections. For this reason, we have developed techniques for extracting and analyzing biological material (DNA and protein) from existing archival temporal bones for which relevant clinical data is cataloged and available. Here, we propose several Specific Aims designed to identify the underlying genetic mutations/genetic variants in existing temporal bone collections housed by members of our consortium, with the purpose of establishing a genotype/otopathology phenotype correlation. This has not been done consistently for any of the known genetic disorders of the inner ear, and the successful outcome of this proposal promises to provide an enhanced resource for the clinician and researcher who wish to link the etiology of inner ear disease with its otopathological outcome.

描述（由申请人提供）：将眼科病理学分析与现有综合症和非综合症内耳疾病的基因筛查相关联是室内耳朵研究所对NIDCD耳科研究协作网络的贡献的目标。这些相关性的价值在于将遗传诊断与对疾病进展和病理后遗症的更好了解以及对未来治疗的靶标的鉴定，并且重要的是改善了遗传咨询。由于几乎完全缺乏与内耳疾病相关的人类活检材料，因此这种联系在很大程度上仍然未知，并且该信息的唯一来源是现有的验尸后颞骨收集。因此，我们开发了从现有的档案颞骨骨骼中提取和分析生物学材料（DNA和蛋白质）的技术，这些骨骼的相关临床数据被分类并可用。在这里，我们提出了几个特定目标，旨在识别我们财团成员所容纳的现有颞骨收集中的基本遗传突变/遗传变异，目的是建立基因型/眼科病理学表型相关性。对于内耳的任何已知遗传疾病，这一建议并未始终如一地做到这一点，该提案的成功结果有望为希望将内耳疾病的病因与其耳病学结果联系起来的临床医生和研究人员提供增强的资源。