Generation of the induced pluripotent stem cell (hiPSC) line (JUFMDOi004-A) from a patient with hearing loss carrying GJB2 (p.V37I) mutation

In this study, we generated induced pluripotent stem cells (iPSC) from peripheral blood mononuclear cells (PBMCs) of patient with homozygous V37I mutation. This iPSC line will be a powerful tool for investigating the pathogenesis and for developing a treatment for GJB2-related hearing loss.
Source: Stem Cell Research - Category: Stem Cells Source Type: research

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AbstractWaardenburg-Shah syndrome is a rare autosomal recessive [AR] inherited disorder characterized by the presence of Hirschsprung ’s disease with a high likelihood of aganglionic megacolon, due to which the mortality is high. The management of the condition involves surgical intervention for the removal of the aganglionic segment of the colon. Here, we report a neonate that presented with a white forelock, white eyelashes, i ris hypopigmentation, and sensorineural deafness associated with bilious vomiting, refusal to feed, and failure to pass meconium indicating intestinal obstruction.
Source: Perioperative Medicine - Category: Surgery Source Type: research
Genetics in Medicine, Published online: 24 January 2020; doi:10.1038/s41436-019-0745-1Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
ConclusionAs the hereby reported condition is very rare, the results cannot be compared with any similar report published previously. Nevertheless, based on the outcome, the treatment strategy seems to be both reasonable and effective.
Source: European Archives of Oto-Rhino-Laryngology - Category: ENT & OMF Source Type: research
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Source: Hearing, Balance and Communication - Category: Audiology Authors: Source Type: research
ConclusionResults showed that targeted next ‐generation sequencing (NGS) enabled us to detect disease‐causing mutations with high accuracy, stability, speed and throughput. Our study extends the pathogenic mutation spectrum ofMITF andSOX10.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Authors: Yang S, Chen S, Zhu J, Han X PMID: 31942778 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Provision of sign language courses for parents of deaf children is found to be "patchy".
Source: BBC News | Health | UK Edition - Category: Consumer Health News Source Type: news
Provision of sign language courses for parents of deaf children is found to be "patchy".
Source: BBC News | Health | UK Edition - Category: Consumer Health News Source Type: news
ConclusionWe speculate that mitochondrial dysfunction may be a feature in patients with DDCH.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
On this episode of ASHA Voices, we dive into the research behind hearing loss reversal. While investigating a genetic form of hearing loss affecting transduction, researcher Jeff Holt  found he could successfully reverse hearing loss in mice. How did the researcher test the rodents’ hearing? By unexpectedly playing loud music and looking for a response in the subjects, nicknamed Beethoven mice. “A deaf mouse doesn’t jump at all, no matter how loud a sound you play. But after introducing our gene therapy into the ears of Beethoven mice, we find they jump again,” says Holt. Also on the show, sens...
Source: American Speech-Language-Hearing Association (ASHA) Press Releases - Category: Speech-Language Pathology Authors: Tags: Academia & Research Audiology Health Care Podcast Slider Speech-Language Pathology ASHA Convention audiologist Hearing Assistive Technology hearing loss Source Type: blogs
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