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Scientifically speaking – Professor Karen Avraham

Professor Karen Avraham is a world-leading genetic specialist who runs her own lab at Tel Aviv University. Her research focusses on understanding the genetic basis of hereditary hearing loss.

By Professor Karen Avraham

The World Health Organisation estimates that there are 466 million people worldwide with a hearing loss. This is a problem that has an impact on children as they’re discovering the world, but also has long-term repercussions for their development into adults.

We’re still some years from effective treatments using gene therapy, as it’s a long process from the lab to the clinic. But health professionals can already help those with a genetic hearing loss with a diagnosis, which can provide critical information regarding rehabilitation options. Sometimes, it can also provide information about what the future holds in terms of the progression of their hearing loss. We are getting closer and I’m optimistic that our research will make an impact.

In fact, there’s never been a more exciting time in my field of research. Multidisciplinary teams are working together like never before – major breakthroughs have been made in understanding the mechanisms of the inner ear. There is a new biotech space opening up, as gene and cell therapy become tangible possibilities as treatments for hearing loss and giving people an improved quality of life.

My work in hearing research

During my PhD, I decided to pursue my post-doctoral training at a mammalian genetics lab. This was early days in the field (none of the genes for deafness had been discovered at that time). In 1995 I identified one of the first deafness genes in mice. I moved to Tel Aviv University to start my own lab and added human genetics into my work, taking advantage of the tremendous opportunities for studying families with hereditary hearing loss from the Middle East.

Given the complexity of the inner ear and of the hearing process itself from ear to brain, many of us predicted that mutations in many different genes would lead to hearing loss. This prediction has been confirmed many times over – and is the basis of the genomic technologies I have integrated into our research.

Our team at Tel Aviv University is currently asking the questions: what are the genes that lead to hearing loss and how are they involved in the normal function of the inner ear? Also, how does epigenetics (a biological process that controls whether genes are active or silent) impact on inner ear function and contribute to the pathology of deafness?

We have already discovered close to 50 rare variants (alteration in genes) for deafness and we were the first to identify specific genetic targets in the inner ear. We have now added gene therapy to our gene discovery and gene expression and regulation studies.

A new programme of research

The Action on Hearing Loss Flexi Grant we received helped get us on our feet. The funding was just what we needed to set up epigenetics of the auditory system in our lab and run one solid preliminary experiment. The initial challenge was to collect enough high-quality DNA from inner ears to understand what drives these changes.

Ofer Yizhar-Barnea, then a PhD student in my lab and now a post-doc at the University of California, spent over a year optimizing these experiments. This work served as preliminary data for our US-Israel Binational Science Foundation grant, which we’ve been awarded for four years, and the first part of the project resulting from these grants was published this year in a leading science journal.

Why research is important to me

It’s my goal to mentor a new generation of scientists, and help people with hearing loss have an improved quality of life. I absolutely love my job, juggling my lab’s research and admin duties as Vice Dean of the Faculty of Medicine. To unwind, I swim several times a week but I’m known to spend time at the pool with my laptop! Every summer I go rafting and camping in Oregon and Idaho.

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