Hela Azaiez
Associate Research Scientist (Hearing)
Person Type: 

My research focuses on the identification of novel genes responsible for Autosomal Dominant Non-Syndromic Hearing Loss (ADNSHL) using next generation sequencing. ADNSHL accounts for approximately 20% of non-syndromic cases of deafness with thirty genes identified to date.  We have developed an efficient strategy to increase the power of variant detection by combing OtoSCOPE to rule out genes known to cause ADNSHL, followed by novel gene discovery achieved by coupling segregation analysis with whole exome sequencing.  The identification of genes associated with deafness is an important step towards a better understanding of the molecular mechanisms of hearing.  The short term benefits this knowledge provides are being realized in clinical medicine, where the use of genetic screening for deafness has changed the evaluation of the deaf person.  In the long term, this knowledge will result in the development of novel treatment options for deafness.