Potential Societal Impact of Advances in GeneticDeafness
遗传性耳聋进展的潜在社会影响
基本信息
- 批准号:6797838
- 负责人:
- 金额:$ 26.89万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2003
- 资助国家:美国
- 起止时间:2003-09-01 至 2007-08-31
- 项目状态:已结题
- 来源:
- 关键词:attitudebehavioral /social science research tagbiotechnologyclinical researchdata collection methodology /evaluationdeafnessearly diagnosisethicsfamily structure /dynamicsfocus groupsgene expressiongene mutationgenetic counselinggenetic disordergenetic mappinggenetic screeninghealth care policyhealth educationhuman subjectinformation disseminationinterviewmarriage counselingpatient care managementpopulation surveyquestionnairessocial psychology
项目摘要
DESCRIPTION (provided by applicant): Progress in understanding the genetic basis of hearing loss is occurring at a rapid pace, with more than 100 genes for deafness already mapped and cloned. These advances in genetic deafness are providing us with information on the basic architecture and functioning of this intricate organ of hearing. It is also leading to the development of molecular diagnostic tests which are used in clinical practice for the evaluation of individuals with hearing loss of unknown etiology. In parallel, advances in technology for audiologic evaluation and the recognition that early identification of hearing loss and initiation of language training can influence the linguistic potential have led to the nationwide implementation of the Early Hearing Detection and Intervention (EHDI) program. However, the pace of communicating these revolutionary advances and their relevance to the consumer have lagged behind. This gap in knowledge of the consumer, and the existence of a Deaf culture, pose unique social and ethical issues for the Deaf and hearing communities. One of the key goals of the ELSI program is to identify, analyze and address the ethical and social implications arising as a result of advances due to the Human Genome Project. Thus we propose to seek and understand the attitudes and concerns of deaf adults and hearing parents of deaf children towards several issues related to genetic testing and technological advances in management of the deaf. We will achieve this by conducting focus group interviews, and using this qualitative information to revise and expand the survey instrument, followed by a nationwide survey of the two groups to seek their knowledge, attitudes and concerns. We will also assess the impact of genetic testing and counseling by measuring its influence on selection of a marriage partner. In order to do this we will test the marriage pattern in 100 deaf probands with Cx26 mutations married before and after the discovery of Cx deafness.
描述(由申请人提供):在了解听力损失的遗传基础方面进展迅速,已有100多个耳聋基因被绘制和克隆。遗传性耳聋的这些进展为我们提供了关于这个复杂的听觉器官的基本结构和功能的信息。它还导致分子诊断测试的发展,用于临床实践中评估病因不明的听力损失患者。与此同时,听力学评估技术的进步,以及对听力损失的早期识别和语言训练的开始可以影响语言潜力的认识,导致了早期听力检测和干预(EHDI)计划在全国范围内的实施。然而,这些革命性进步的传播速度及其与消费者的相关性却落后了。这种对消费者的认知差距,以及聋人文化的存在,给聋人和听力健全群体带来了独特的社会和伦理问题。ELSI计划的主要目标之一是识别、分析和解决由于人类基因组计划的进展而产生的伦理和社会影响。因此,我们建议寻求和了解聋人成年人和聋儿的听力父母对基因检测和聋人管理技术进步的几个问题的态度和关注。我们将通过进行焦点小组访谈,并利用这些定性信息修改和扩大调查工具来实现这一目标,然后在全国范围内对这两个群体进行调查,以了解他们的知识、态度和关切。我们还将通过测量基因检测和咨询对选择婚姻伴侣的影响来评估其影响。为了做到这一点,我们将测试100名携带Cx26突变的聋人先证者在发现Cx耳聋之前和之后结婚的婚姻模式。
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)
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ARTI PANDYA其他文献
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{{ truncateString('ARTI PANDYA', 18)}}的其他基金
Potential Societal Impact of Advances in GeneticDeafness
遗传性耳聋进展的潜在社会影响
- 批准号:
7115224 - 财政年份:2003
- 资助金额:
$ 26.89万 - 项目类别:
Potential Societal Impact of Advances in GeneticDeafness
遗传性耳聋进展的潜在社会影响
- 批准号:
6945887 - 财政年份:2003
- 资助金额:
$ 26.89万 - 项目类别:
DEAFNESS IN WS1: SEARCH FOR GENETIC MODIFIERS
WS1 中的耳聋:寻找基因修饰剂
- 批准号:
6526936 - 财政年份:1998
- 资助金额:
$ 26.89万 - 项目类别:
DEAFNESS IN WS1: SEARCH FOR GENETIC MODIFIERS
WS1 中的耳聋:寻找基因修饰剂
- 批准号:
6182244 - 财政年份:1998
- 资助金额:
$ 26.89万 - 项目类别:
DEAFNESS IN WS1: SEARCH FOR GENETIC MODIFIERS
WS1 中的耳聋:寻找基因修饰剂
- 批准号:
6387327 - 财政年份:1998
- 资助金额:
$ 26.89万 - 项目类别:
DEAFNESS IN WAARDENBURG SYN TYPE 1: GENETIC MODIFIERS
WAARDENBURG SYN 类型 1 中的耳聋:遗传修饰物
- 批准号:
2463087 - 财政年份:1998
- 资助金额:
$ 26.89万 - 项目类别:
DEAFNESS IN WS1: SEARCH FOR GENETIC MODIFIERS
WS1 中的耳聋:寻找基因修饰剂
- 批准号:
2888710 - 财政年份:1998
- 资助金额:
$ 26.89万 - 项目类别: