Deafness – Identifying All Genetic Causes Within Reach

Posted: June 21, 2013 at 4:45 am

Editor's Choice Academic Journal Main Category: Hearing / Deafness Also Included In: Genetics Article Date: 21 Jun 2013 - 0:00 PDT

Current ratings for: Deafness - Identifying All Genetic Causes Within Reach

According to WHO (World Health Organization), more than 360 million people worldwide live with disabling hearing loss.

So far, geneticists have identified 1,000 mutations in 64 genes in the human genome that have been associated with deafness.

The authors explained that next-generation DNA sequencing technologies are accelerating the identification of genetic variants that cause deafness.

In this latest report - "Next Generation Sequencing in Genetic Hearing Loss" - Susan Blanton, Mustafa Tekin, Xue Zhong Liu and Denise Yan gathered and examined data on the advances in high-throughput, massively parallel DNA sequencing that amplify and repeatedly sequence only certain regions of the human genome where genes associated with hearing loss are probably located.

This strategy is called "targeted resequencing". Scientists are able to locate disease-related gene mutations much faster than searching through the whole genome.

So far, over 1,000 DNA variants at over 130 sites in the human genome that have been identified to cause hearing loss and are not linked to any other symptoms or syndromes have been located.

The authors wrote:

Kenneth I. Berns, MD, PhD, Editor-in-Chief of Genetic Testing and Molecular Biomarkers said "Knowledge of the genetic lesions underlying deafness will greatly assist development of targeted therapy."

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Deafness - Identifying All Genetic Causes Within Reach

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