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）：将耳病理学分析与现有综合征型和非综合征型内耳疾病的基因筛查相关联是 House Ear Institute 对 NIDCD 耳病理学研究合作网络做出贡献的目标。这些相关性的价值在于将基因诊断与更好地了解疾病进展和病理后遗症联系起来，以及确定未来治疗的目标，更重要的是，改进遗传咨询。由于几乎完全缺乏与内耳疾病相关的人体活检材料，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死后颞骨集合。为此，我们开发了从现有档案颞骨中提取和分析生物材料（DNA 和蛋白质）的技术，相关临床数据已编目并可用。在这里，我们提出了几个具体目标，旨在识别我们联盟成员所拥有的现有颞骨集合中潜在的基因突变/基因变异，目的是建立基因型/耳病理学表型相关性。对于任何已知的内耳遗传性疾病，这一点尚未得到一致的执行，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理学结果联系起来的临床医生和研究人员提供增强的资源。

项目成果

期刊论文数量（25）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Vestibular neuritis: the vertigo disappears, the histological traces remain.

前庭神经炎：眩晕消失，组织学痕迹残留。

DOI：
发表时间：
2012-09
期刊：
影响因子：
0
作者：
Richard, Céline;Linthicum Jr, Fred H
通讯作者：
Linthicum Jr, Fred H

Distribution of melanocytes in the human cochlea.

人类耳蜗中黑素细胞的分布。

DOI：
发表时间：
2015-03
期刊：
影响因子：
0
作者：
Roberts DS;Linthicum FH Jr
通讯作者：
Linthicum FH Jr

Histopathological analysis of a 15-year user of an auditory brainstem implant.

对一名 15 年听觉脑干植入物使用者的组织病理学分析。

DOI：
发表时间：
2012-03
期刊：
影响因子：
0
作者：
Otto, Steven R;Moore, Jean;Linthicum, Fred;Hitselberger, William;Brackmann, Derald;Shannon, Robert V
通讯作者：
Shannon, Robert V

Recurrent schwannoma postirradiation: histological review reveals mixed schwannoma and meningioma.

放射后复发性神经鞘瘤：组织学检查显示混合性神经鞘瘤和脑膜瘤。