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Hearing impairment is the most common neurosensory defect. It affects one in every thousand newborns, 4% of people under 45, and 50% of everyone over 80. Cells acquire a particular orientation during embryonic development. This process — planar cell polarity — is responsible for the precise orientation, or tilt, of hair cells in the inner ear, enabling them to act as accurate sound sensors. The genes and proteins that are responsible for planar cell polarity also play a role in the arrangement of neurons in the brain. Prof. Karen Avraham and Dr. David Sprinzak are working to understand these developmental processes in hopes of learning how to treat genetic deafness and related brain disorders.


Karen Avraham is a Professor of Genetics in the Department of Human Molecular Genetics and Biochemistry at the TAU Sackler Faculty of Medicine. She was born in the US and grew up in North Caldwell, NJ. She did her undergraduate training at Washington University in St. Louis.

Her first breakthrough in the field of hereditary impairment came in 1995, when she discovered the gene for deafness in the Snell’s waltzer mouse, a model for this sensory defect in humans, as a post-doctoral fellow at the National Cancer Institute. This work was one of the first to use mouse models to decipher mechanisms of hearing loss in humans, and paved the way for subsequent similar work in the field worldwide.

For nearly 20 years, Prof. Avraham has centered her research on the discovery of disease genes, focusing on hereditary hearing loss. Her team has identified and characterized genes involved in hereditary deafness in both the Israeli Jewish and Palestinian populations. This began with the prevalence of connexin 26 mutations in these populations, the most common form of deafness, to the identification of mutations in 31 genes, with seven of these genes discovered for the first time by Prof. Avraham's team.

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