Emerging gene therapies for genetic hearing loss
H Ahmed, O Shubina-Oleinik, JR Holt - … of the Association for Research in …, 2017 - Springer
Gene therapy, or the treatment of human disease using genetic material, for inner ear
dysfunction is coming of age. Recent progress in developing gene therapy treatments for …
dysfunction is coming of age. Recent progress in developing gene therapy treatments for …
[HTML][HTML] Autosomal recessive nonsyndromic deafness genes: a review
More than 50 percent of prelingual hearing loss is genetic in origin, and of these up to 93
percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be …
percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be …
In vivo base editing restores sensory transduction and transiently improves auditory function in a mouse model of recessive deafness
WH Yeh, O Shubina-Oleinik, JM Levy, B Pan… - Science translational …, 2020 - science.org
Most genetic diseases arise from recessive point mutations that require correction, rather
than disruption, of the pathogenic allele to benefit patients. Base editing has the potential to …
than disruption, of the pathogenic allele to benefit patients. Base editing has the potential to …
Tmc gene therapy restores auditory function in deaf mice
C Askew, C Rochat, B Pan, Y Asai, H Ahmed… - Science translational …, 2015 - science.org
Genetic hearing loss accounts for up to 50% of prelingual deafness worldwide, yet there are
no biologic treatments currently available. To investigate gene therapy as a potential …
no biologic treatments currently available. To investigate gene therapy as a potential …
[HTML][HTML] Preventing autosomal-dominant hearing loss in Bth mice with CRISPR/CasRx-based RNA editing
Z Zheng, G Li, C Cui, F Wang, X Wang, Z Xu… - … and Targeted Therapy, 2022 - nature.com
Abstract CRISPR/RfxCas13d (CasRx) editing system can specifically and precisely cleave
single-strand RNAs, which is a promising treatment for various disorders by downregulation …
single-strand RNAs, which is a promising treatment for various disorders by downregulation …
[HTML][HTML] Copy number variants are a common cause of non-syndromic hearing loss
Abstract Background Copy number variants (CNVs) are a well-recognized cause of genetic
disease; however, methods for their identification are often gene-specific, excluded as …
disease; however, methods for their identification are often gene-specific, excluded as …
[HTML][HTML] Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
Z Brownstein, LM Friedman, H Shahin, V Oron-Karni… - Genome biology, 2011 - Springer
Background Identification of genes responsible for medically important traits is a major
challenge in human genetics. Due to the genetic heterogeneity of hearing loss, targeted …
challenge in human genetics. Due to the genetic heterogeneity of hearing loss, targeted …
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
Consanguineous Pakistani pedigrees segregating deafness have contributed decisively to
the discovery of 31 of the 68 genes associated with nonsyndromic autosomal recessive …
the discovery of 31 of the 68 genes associated with nonsyndromic autosomal recessive …
[HTML][HTML] Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss
Comprehensive genetic testing has the potential to become the standard of care for
individuals with hearing loss. In this study, we investigated the genetic etiology of autosomal …
individuals with hearing loss. In this study, we investigated the genetic etiology of autosomal …
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey
More than 60% of prelingual deafness is genetic in origin, and of these up to 95% are
monogenic autosomal recessive traits. Causal mutations have been identified in 1 of 38 …
monogenic autosomal recessive traits. Causal mutations have been identified in 1 of 38 …