Prof. Karen Avraham

My research focuses on the discovery and characterization of genes responsible for hereditary hearing loss. As our lab is located in Tel Aviv, Israel, we have the opportunity to study the genetic basis of deafness in families from the Middle East, from both the Israeli Jewish and Palestinian Arab populations. Given the complexity of the inner ear and of auditory transduction, many of us predicted that variants in any of 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.

In the last decade, my work has covered the transcriptome and epigenome of the auditory and vestibular systems, in order to dissect the regulatory pathways of these systems. This work includes the microRNAs, long non-coding RNAs, and whole genome methylation. My team has studied the mechanisms and pathophysiology of deafness in several mouse models, which mimic human hearing loss extremely well. We have created a number of mouse mutants using the gene editing tool CRISPR/Cas9. Moreover, we are using AAV-gene therapy to rescue hearing in several mouse models.

Recently, we have embarked on studying the mechanisms of GRIN2D in causing developmental delay and epilepsy, which, like deafness, is a rare disease among a relatively common phenotype of epileptic encephalopathy.

The research in my laboratory enables us to understand mechanisms of pathogenesis leading to human disease and the biological pathways required for development and maintenance of the inner ear and the brain. Our research is funded by the NIH-NIDCD, the Israel Science Foundation, the US-Israel Binational Science Foundation, the German-Israel Foundation for Scientific Research and Development, the Beutler Research Program of Excellence in Genomic Medicine, the Israel Precision Medicine Partnership Program, and the Israeli Science Foundation Breakthrough Research Award.

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