New Trends in Research and Clinical Practice for Congenital Hearing Loss Caused by Gene Mutations
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- Matsunaga Tatsuo
- National Hospital Organization Tokyo Medical Center, National Institute of Sensory Organs/Medical Genetics Center
Bibliographic Information
- Other Title
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- 先天性難聴児の遺伝子変異の研究と診療における新しい動向
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Abstract
Here we review the current situation of research and clinical practice relating to congenital hearing loss and introduce our approaches to these issues. Approximately 70% of patients with congenital hearing loss are caused by genetic mutations, and diagnosis of the genetic causes may lead to prediction of clinical features which would be useful for clinical diagnosis and therapy. This is especially valuable for infants in whom auditory tests cannot easily provide accurate information. In Japan, genetic tests for congenital hearing loss are covered by national health insurance. Because genetic information contains important personal information on the individual, it needs to be used cautiously. Genetic diagnosis and therapy should be appropriately included within the flow of clinical practice for hearing loss. Since the genetic causes of hearing loss are quite diverse, appropriate tests are necessary. As a new technology for genetic testing, a next-generation sequencer has been developed and its high performance has been reported. Many issues concerning genetic diagnosis and therapy remain to be resolved, and efforts to solve such problems are being made. In order to establish fundamental therapies for hereditary hearing loss, several approaches have been underway. As an example, we are currently conducting research on drug development using iPS cells from patients with hearing loss attributable to Pendred syndrome.
Journal
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- The Japan Journal of Logopedics and Phoniatrics
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The Japan Journal of Logopedics and Phoniatrics 56 (3), 219-225, 2015
The Japan Society of Logopedics and Phoniatrics
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Keywords
Details 詳細情報について
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- CRID
- 1390001204900185984
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- NII Article ID
- 130005095252
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- ISSN
- 18843646
- 00302813
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- Text Lang
- ja
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- Data Source
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- JaLC
- Crossref
- CiNii Articles
- KAKEN
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- Abstract License Flag
- Disallowed