September 2011: An Israeli scientist at Tel Aviv University has developed a unique fast-track gene-based technology to diagnose hearing loss, one that is faster and cheaper than current methods. Professor Karen Avraham at the university’s Sackler Faculty of Medicine working together in a unique collaboration with Professor Moein Kanaan from Bethlehem University, used “exome deep sequencing”, a method which sequences thousands of genes at a time.

Exome sequencing collects relevant DNA from specific sites of the body. The process was used to identify five genetic mutations leading to deafness in a population of 11 Jewish Israelis and Palestinian Authority Arabs. None were related to each other, but all had deafness in their families. This is the first time scientists have identified some of these genetic mutations in Middle Eastern deaf populations, and the first time this technology has ever been applied to these populations. The research was funded by the U.S. National Institutes of Health.

Avraham’s method provides better diagnosis capabilities and can improve the quality of care for patients with hearing loss, she reported in the latest issue of Genome Biology. For less than $500, researchers can now scan all the known genes for deafness and provide results in a matter of weeks, as opposed to testing that in the past has cost many times more.

More than 28 million Americans are hearing impaired, with at least half of the cases traced to genetic causes. The condition can be especially challenging for children who are born with hearing impairment, because spoken language, reading and cognitive development are all tied to hearing. “That makes early diagnosis essential for identifying appropriate therapy and treatment,” Avraham commented.

“It is a remarkable step forward in helping us to find treatments and even cures for patients,” she added. “This new technology is changing the way we practice genomic medicine, and revolutionizing genetic diagnostics.” The technology can be used to search for genetic mutations that characterize any disease or condition, she noted.

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