Big data approaches to identify novel hearing loss genes

01/02/2020 to 01/08/2021

Our mission at the Tübingen Hearing Research Centre is to uncover the genetic basis of hearing disorders for future therapeutic development. The socio-economic burden of hearing loss is enormous. Strategies to for early diagnostics, therapies and treatments are greatly needed. With an intramural research grant from the Medical Faculty (fortüne) at the University of Tübingen, I have the opportunity to identify novel hereditary hearing loss genes in patients who have not yet been genetically diagnosed. Only RiSC funding would enable me to apply state-of-the-art bioinformatics workflows on approximately 400 existing sequencing datasets of hearing loss patients. The RiSC funding will generate a significant added value for my fortüne project. It is not only expected that additional families will be identified to support my results, but also that new genes will be identified and recognized through data exchange with an extended network of geneticists. The main risk of the ongoing project is the misinterpretation of genetic variants that could imply false associations between gene and disease and result in the false diagnosis and prognosis of patients. The RiSC project significantly reduces this risk. In addition, it will be tested how efficiently newly identified genes and clinical observations (severity, outcome, progression) can be correlated. The extensive genetic data obtained in the RiSC project could significantly increase the efficiency of clinically relevant genetic diagnostics. The RiSC project will provide a critical basis for analysis/re-analysis of data beyond the 18-month project and will contribute novel insights about the genetics of hearing loss. With the help of the RiSC project, the newly gained knowledge about the genetics of hearing loss can be transferred to a future successful DFG project with a greater chance of success. These results will benefit optimized personalized genetic diagnostics in society by improving early diagnosis, identifying endpoints for therapies and optimized treatments.