MOLECULAR GENETICS OF AND GENE THERAPY FOR DEAFNESS
耳聋的分子遗传学和基因治疗
基本信息
- 批准号:6175605
- 负责人:
- 金额:$ 10.53万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:1996
- 资助国家:美国
- 起止时间:1996-07-01 至 2001-06-30
- 项目状态:已结题
- 来源:
- 关键词:adeno associated virus group beta galactosidase clinical research cochlea congenital deafness disease /disorder model disease /disorder proneness /risk drug delivery systems family genetics gene therapy genetic markers guinea pigs human subject immunocytochemistry in situ hybridization linkage mapping neural degeneration neurogenetics neurotrophic factors nucleic acid sequence transfection transfection /expression vector
项目摘要
Hereditary hearing impairment affects between 0.05 to 0.1% of the total
US population. However, the precise cause of inherited auditory
impairment at the molecular level is poorly understood due to the genetic
heterogeneity of deafness. A strategy that overcomes the problem with
genetic heterogeneity involves carrying out linkage analysis on families
with nonsyndromic hereditary deafness. A three generation family with
Schiebe or cochleosaccular degeneration, the most common cause of
profound, congenital hearing impairment accounting for approximately 70%
of cases of hereditary deafness, that is suitable for linkage studies has
been identified. The immediate goal of the proposed research project is
to map the location of gene responsible for Scheibe degeneration in this
family using commercially available genomic markers. Once linkage to a
region of the human genome is established, suitable candidate genes that
reside in the linked region will be identified. These candidate genes
will then be searched for the pathological mutation. The genetic study
of this family and the subsequent identification of the gene which, when
mutated, results in Scheibe degeneration should greatly aid in the
understanding of the development and homeostatic mechanisms of the inner
ear.
The purpose of the second component of this proposal is to assess the
utility of adeno-associated virus (AAV, a non-pathogenic human
parvovirus) in introducing genetic material into the neuroepithelia of
the inner ear. While gene transfer has been successfully performed in
a large variety of post-mitotic cells such as myotubes, hepatocytes,
endothelial cells, airway epithelial cells, and a variety of neuronal
cells, the inner ear has not been studied as a target for gene therapy.
The AAV containing the bacterial beta-galactosidase (beta-gal) sequence,
a marker gene whose product is readily detectable, will be infused
selectively into the cochlea with the aid of an osmotic minipump. The
infused cochleas will be studied at various interval-transduction to
assess the specificity and stability of AAV infection. Experimentally,
the ability to introduce genes into the inner ear will aid in the
understanding the function of cochlear proteins and control of inner ear
specific genes. Therapeutically, the prompt delivery of neurotrophic
factors could reduce the tissue damage and preserve hearing following
injury. Positional cloning studies in several large families with
hereditary, non-syndromic hearing impairment represent potential
candidate genes for gene therapy. These studies will aid in designing
therapeutic strategies to alleviate auditory dysfunction as well as
contributing towards molecular genetic analysis of hearing.
遗传性听力障碍影响了总数的0.05到0.1%
项目成果
期刊论文数量(4)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
The use of Preyer's reflex in evaluation of hearing in mice.
- DOI:10.1080/00016480118142
- 发表时间:2001-07
- 期刊:
- 影响因子:1.4
- 作者:J. Jero;D. Coling;A. Lalwani
- 通讯作者:J. Jero;D. Coling;A. Lalwani
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Anil K Lalwani其他文献
Predictability of cochlear implant outcome in families
家庭中人工耳蜗植入结果的可预测性
- DOI:
10.1002/lary.20016 - 发表时间:
2009 - 期刊:
- 影响因子:0
- 作者:
Anil K Lalwani;Cameron L. Budenz;Adam S. Weisstuch;James Babb;J. Roland;S. Waltzman - 通讯作者:
S. Waltzman
Nonviral intracochlear gene therapy
- DOI:
10.1016/s0194-5998(99)80047-3 - 发表时间:
1999-08-01 - 期刊:
- 影响因子:
- 作者:
Robert M Pettis;Markus H.F. Pfister;Anand N Mhatre;Jay J Han;Anil K Lalwani - 通讯作者:
Anil K Lalwani
Should antibiotics be prescribed for acute otitis media?
急性中耳炎需要服用抗生素吗?
- DOI:
10.1002/lary.22432 - 发表时间:
2012 - 期刊:
- 影响因子:0
- 作者:
A. Anwar;Anil K Lalwani - 通讯作者:
Anil K Lalwani
Venous malformations of the temporal bone are a common feature in CHARGE syndrome
颞骨静脉畸形是 CHARGE 综合征的常见特征
- DOI:
- 发表时间:
2012 - 期刊:
- 影响因子:0
- 作者:
D. Friedmann;M. Amoils;J. Germiller;L. Lustig;C. Glastonbury;B. Pramanik;Anil K Lalwani - 通讯作者:
Anil K Lalwani
Anesthetic Complications Associated with Pediatric Cochlear Implantation
与小儿人工耳蜗植入相关的麻醉并发症
- DOI:
10.1002/lary.21300 - 发表时间:
2010 - 期刊:
- 影响因子:0
- 作者:
Joseph S. Yeh;Kimberly L. Mooney;Jung T. Kim;Anil K Lalwani - 通讯作者:
Anil K Lalwani
Anil K Lalwani的其他文献
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{{ truncateString('Anil K Lalwani', 18)}}的其他基金
Role of Conventional Myosin MYH9 in Hearing
传统肌球蛋白 MYH9 在听力中的作用
- 批准号:
7066025 - 财政年份:2002
- 资助金额:
$ 10.53万 - 项目类别:
Role of Conventional Myosin MYH9 in Hearing
传统肌球蛋白 MYH9 在听力中的作用
- 批准号:
6894723 - 财政年份:2002
- 资助金额:
$ 10.53万 - 项目类别:
Role of Conventional Myosin MYH9 in Hearing
传统肌球蛋白 MYH9 在听力中的作用
- 批准号:
6803101 - 财政年份:2002
- 资助金额:
$ 10.53万 - 项目类别:
Role of Conventional Myosin MYH9 in Hearing
传统肌球蛋白 MYH9 在听力中的作用
- 批准号:
6545854 - 财政年份:2002
- 资助金额:
$ 10.53万 - 项目类别:
Role of Conventional Myosin MYH9 in Hearing
传统肌球蛋白 MYH9 在听力中的作用
- 批准号:
6608541 - 财政年份:2002
- 资助金额:
$ 10.53万 - 项目类别:
MOLECULAR GENETICS OF AND GENE THERAPY FOR DEAFNESS
耳聋的分子遗传学和基因治疗
- 批准号:
2733619 - 财政年份:1996
- 资助金额:
$ 10.53万 - 项目类别:
MOLECULAR GENETICS OF AND GENE THERAPY FOR DEAFNESS
耳聋的分子遗传学和基因治疗
- 批准号:
2124637 - 财政年份:1996
- 资助金额:
$ 10.53万 - 项目类别:
MOLECULAR GENETICS OF AND GENE THERAPY FOR DEAFNESS
耳聋的分子遗传学和基因治疗
- 批准号:
6030111 - 财政年份:1996
- 资助金额:
$ 10.53万 - 项目类别:
MOLECULAR GENETICS OF AND GENE THERAPY FOR DEAFNESS
耳聋的分子遗传学和基因治疗
- 批准号:
2443547 - 财政年份:1996
- 资助金额:
$ 10.53万 - 项目类别:
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