Evaluation of a Deafness GeneChip

耳聋基因芯片的评估

基本信息

  • 批准号:
    6852353
  • 负责人:
  • 金额:
    $ 25.95万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2004
  • 资助国家:
    美国
  • 起止时间:
    2004-12-01 至 2006-11-30
  • 项目状态:
    已结题

项目摘要

DESCRIPTION (provided by applicant): Hearing loss is the most common sensory impairment with a prevalence of 1 in 250 births (NCHAM, 2004). Over half of these children have a genetic cause for their hearing impairment with 93 nonsyndromic loci (Van Camp & Smith, 2004) and over 500 syndromic loci (OMIM, 2004) implicated. Despite the discovery of 41 of the genes for nonsyndromic hearing loss, very few genetic tests have been developed, largely due to the enormous cost of offering full sequencing tests for these genes with few known common mutations. To address this problem, a Deafness GeneChip has been created which contains 8 genes known to be involved in recessive nonsyndromic hearing loss: GJB2, MYO6, MYO7A, OTOF, PRES, TMIE, TMPRSS3, and USH1C. Although this technology looks promising as a cost-effective way to expand genetic testing for hearing loss, it is new to clinical diagnostics and needs to be validated in a rigorous manner. This project will identify 156 patients with an unknown cause of prelingual nonsyndromic sensorineural hearing loss (SNHL) and compare their gene sequences generated by both GeneChip technology and traditional sequencing. This will be used to determine the base call rate, false positive rate, and false negative rate which will in turn be used to calculate the analytical sensitivity and the efficiency and effectiveness of the Deafness GeneChip, as compared to traditional dideoxy DNA sequencing of these genes. In addition, the data from the sequences of these 156 patients will be used to identify mutations and thereby determine the clinical sensitivity of this Deafness GeneChip and the relative contribution of each of these genes to prelingual nonsyndromic SNHL.
描述(由申请人提供):听力损失是最常见的感觉障碍,患病率为1/250(NCHAM,2004)。这些儿童中超过一半的听力障碍有遗传原因,涉及93个非综合征基因座(货车Camp & Smith,2004)和超过500个综合征基因座(OMIM,2004)。尽管发现了41个非综合征性听力损失的基因,但很少有基因检测被开发出来,这主要是由于为这些基因提供完整的测序测试的巨大成本,这些基因几乎没有已知的常见突变。为了解决这个问题,已经创建了一个耳聋基因芯片,其中包含8个已知与隐性非综合征性听力损失有关的基因:GJB 2,MYO 6,MYO 7A,OTOF,PRES,TMIE,TMPRSS 3和USH 1C。虽然这项技术看起来很有希望成为扩大听力损失基因检测的一种具有成本效益的方法,但它对临床诊断来说是新的,需要以严格的方式进行验证。该项目将确定156名不明原因的语前非综合征型感音神经性听力损失(SNHL)患者,并比较基因芯片技术和传统测序产生的基因序列。这将用于确定碱基识别率、假阳性率和假阴性率,其将反过来用于计算与这些基因的传统双脱氧DNA测序相比,耳聋基因芯片的分析灵敏度以及效率和有效性。此外,来自这156名患者的序列的数据将用于鉴定突变,从而确定该耳聋基因芯片的临床敏感性以及这些基因中的每一个对语前非综合征SNHL的相对贡献。

项目成果

期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)

数据更新时间:{{ journalArticles.updateTime }}

{{ item.title }}
{{ item.translation_title }}
  • DOI:
    {{ item.doi }}
  • 发表时间:
    {{ item.publish_year }}
  • 期刊:
  • 影响因子:
    {{ item.factor }}
  • 作者:
    {{ item.authors }}
  • 通讯作者:
    {{ item.author }}

数据更新时间:{{ journalArticles.updateTime }}

{{ item.title }}
  • 作者:
    {{ item.author }}

数据更新时间:{{ monograph.updateTime }}

{{ item.title }}
  • 作者:
    {{ item.author }}

数据更新时间:{{ sciAawards.updateTime }}

{{ item.title }}
  • 作者:
    {{ item.author }}

数据更新时间:{{ conferencePapers.updateTime }}

{{ item.title }}
  • 作者:
    {{ item.author }}

数据更新时间:{{ patent.updateTime }}

HEIDI L REHM其他文献

HEIDI L REHM的其他文献

{{ item.title }}
{{ item.translation_title }}
  • DOI:
    {{ item.doi }}
  • 发表时间:
    {{ item.publish_year }}
  • 期刊:
  • 影响因子:
    {{ item.factor }}
  • 作者:
    {{ item.authors }}
  • 通讯作者:
    {{ item.author }}

{{ truncateString('HEIDI L REHM', 18)}}的其他基金

Tracking Ethical Provenance for Sharing Genomic and Health Related Data
追踪共享基因组和健康相关数据的道德来源
  • 批准号:
    10791228
  • 财政年份:
    2021
  • 资助金额:
    $ 25.95万
  • 项目类别:
The Global Alliance for Genomics and Health: Setting the Standards for Genomics and Health-Related Data Sharing
全球基因组学与健康联盟:制定基因组学和健康相关数据共享标准
  • 批准号:
    10089618
  • 财政年份:
    2021
  • 资助金额:
    $ 25.95万
  • 项目类别:
The Global Alliance for Genomics and Health: Setting the Standards for Genomics and Health-Related Data Sharing
全球基因组学与健康联盟:制定基因组学和健康相关数据共享标准
  • 批准号:
    10343724
  • 财政年份:
    2021
  • 资助金额:
    $ 25.95万
  • 项目类别:
Empirical Validation of GA4GH's Data Use Ontology with NIH Datasets' Data Use Limitations
GA4GH 数据使用本体与 NIH 数据集数据使用限制的实证验证
  • 批准号:
    10367297
  • 财政年份:
    2021
  • 资助金额:
    $ 25.95万
  • 项目类别:
The Global Alliance for Genomics and Health: Setting the Standards for Genomics and Health-Related Data Sharing
全球基因组学与健康联盟:制定基因组学和健康相关数据共享标准
  • 批准号:
    10554330
  • 财政年份:
    2021
  • 资助金额:
    $ 25.95万
  • 项目类别:
Partners Healthcare Training Program in Precision and Genomic Medicine
精准与基因组医学合作伙伴医疗保健培训计划
  • 批准号:
    10394807
  • 财政年份:
    2019
  • 资助金额:
    $ 25.95万
  • 项目类别:
Partners Healthcare Training Program in Precision and Genomic Medicine
精准与基因组医学合作伙伴医疗保健培训计划
  • 批准号:
    10671450
  • 财政年份:
    2019
  • 资助金额:
    $ 25.95万
  • 项目类别:
Evaluation of a Deafness GeneChip
耳聋基因芯片的评估
  • 批准号:
    6984829
  • 财政年份:
    2004
  • 资助金额:
    $ 25.95万
  • 项目类别:
Management, Dissemination, and Training
管理、传播和培训
  • 批准号:
    9755467
  • 财政年份:
  • 资助金额:
    $ 25.95万
  • 项目类别:
Production Core
生产核心
  • 批准号:
    9359634
  • 财政年份:
  • 资助金额:
    $ 25.95万
  • 项目类别:

相似海外基金

FAIRClinical: FAIR-ification of Supplementary Data to Support Clinical Research
FAIRClinical:补充数据的 FAIR 化以支持临床研究
  • 批准号:
    EP/Y036395/1
  • 财政年份:
    2024
  • 资助金额:
    $ 25.95万
  • 项目类别:
    Research Grant
Optimizing integration of veterinary clinical research findings with human health systems to improve strategies for early detection and intervention
优化兽医临床研究结果与人类健康系统的整合,以改进早期检测和干预策略
  • 批准号:
    10764456
  • 财政年份:
    2023
  • 资助金额:
    $ 25.95万
  • 项目类别:
The IDeA State Consortium for a Clinical Research Resource Center: Increasing Clinical Trials in IDeA States through Communication of Opportunities, Effective Marketing, and WorkforceDevelopment
IDeA 州临床研究资源中心联盟:通过机会交流、有效营销和劳动力发展增加 IDeA 州的临床试验
  • 批准号:
    10715568
  • 财政年份:
    2023
  • 资助金额:
    $ 25.95万
  • 项目类别:
The Mayo Clinic NeuroNEXT Clinical Research Site
梅奥诊所 NeuroNEXT 临床研究网站
  • 批准号:
    10743328
  • 财政年份:
    2023
  • 资助金额:
    $ 25.95万
  • 项目类别:
Addressing Underperformance in Clinical Trial Enrollments: Development of a Clinical Trial Toolkit and Expansion of the Clinical Research Footprint
解决临床试验注册表现不佳的问题:开发临床试验工具包并扩大临床研究足迹
  • 批准号:
    10638813
  • 财政年份:
    2023
  • 资助金额:
    $ 25.95万
  • 项目类别:
Improving Multicultural Engagement in Clinical Research through Partnership with Federally Qualified Health Centers and Community Health Worker Programs
通过与联邦合格的健康中心和社区卫生工作者计划合作,改善临床研究中的多元文化参与
  • 批准号:
    10823828
  • 财政年份:
    2023
  • 资助金额:
    $ 25.95万
  • 项目类别:
The Minnesota TMD IMPACT Collaborative: Integrating Basic/Clinical Research Efforts and Training to Improve Clinical Care
明尼苏达州 TMD IMPACT 协作:整合基础/临床研究工作和培训以改善临床护理
  • 批准号:
    10828665
  • 财政年份:
    2023
  • 资助金额:
    $ 25.95万
  • 项目类别:
Promoting a Culture Of Innovation, Mentorship, Diversity and Opportunity in NCI Sponsored Clinical Research: NCI Research Specialist (Clinician Scientist) Award Application of Janice M. Mehnert, M.D.
在 NCI 资助的临床研究中促进创新、指导、多样性和机会文化:Janice M. Mehnert 医学博士的 NCI 研究专家(临床科学家)奖申请
  • 批准号:
    10721095
  • 财政年份:
    2023
  • 资助金额:
    $ 25.95万
  • 项目类别:
Clinical Research Center for REstoration of NEural-based Function in the Real World (RENEW)
现实世界神经功能恢复临床研究中心 (RENEW)
  • 批准号:
    10795328
  • 财政年份:
    2023
  • 资助金额:
    $ 25.95万
  • 项目类别:
Clinical Research and Academic Success in Obstetrics & Gynecology
产科临床研究和学术成就
  • 批准号:
    10828252
  • 财政年份:
    2023
  • 资助金额:
    $ 25.95万
  • 项目类别:
{{ showInfoDetail.title }}

作者:{{ showInfoDetail.author }}

知道了