Audiogenetic Clinic Göttingen: Clinical, Genetic, and Functional Characterization of Novel Hearing Loss Genes (A01)

• Subject Area: Experimental Models for the Understanding of Nervous System Diseases ; Otolaryngology, Phoniatrics and Audiology ; Human Genetics
• Term: since 2025
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 528760423

We combine detailed clinical phenotyping of patients with hearing loss with NGS-based panel sequencing of hearing-loss genes and interdisciplinary counselling as well as whole-exome and short/long-read whole-genome sequencing strategies to identify at least 5 novel deafness gene candidates. We will further characterize these in mouse models and elucidate their role in hearing loss. For example, we have recently identified a mutation in CACHD1 in a patient with auditory fatigue, which we will further characterize in vitro and in vivo in a novel mouse model to assess the role of CACHD1 in indefatigable sound encoding in the inner ear.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1690: Disease Mechanisms and Functional Restoration of Sensory and Motor Systems
• Applicant Institution: Georg-August-Universität Göttingen
• Project Heads: Professorin Dr. Nicola Strenzke; Professor Dr. Bernd Wollnik