Science is moving fast in addressing genetic causes of deafness

David Kirkwood
June 21, 2013

NEW ROCHELLE, NY—“Over the next decade, most of the variant genes responsible for deafness will be identified, and such knowledge will lead to the development of practical treatments.” So predict four scientists from the University of Miami writing in the June 2013 issue of Genetic Testing and Molecular Biomarkers (GTMB).

In their paper, “Next-Generation Sequencing in Genetic Hearing Loss,” the authors conclude: “As genomic information becomes more affordable and readily available, it will have a broad impact in the medical world. The inclusion of genetic information in healthcare has the potential to provide patients with valuable risk assessments based on their family history and genetic profile, and to carve a niche for personalized medicine.”

The authors–Denise Yan, PhD, and Xue Zhong Liu, MD, PhD, of the University of Miami (Florida), and Mustafa Tekin, MD, and Susan Blanton, PhD, of the University of Miami Miller School of Medicine—state that “the advent of the $1000 genome has the potential to revolutionize the identification of genes and their mutations underlying genetic disorders… especially for extremely heterogeneous Mendelian conditions such as deafness, where the mutation, and indeed the gene, may be private.”

Yan et al. report that at least 50% of prelingual hearing loss in developed countries is of genetic origin, and many cases of later onset progressive losses are as well. To date, they write, 64 non-syndromic hearing loss genes, with more than 1000 mutations, have been implicated in hearing impairment.

Genetic Testing and Molecular Biomarkers is published by Mary Ann Liebert, Inc., in New Rochelle.

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