Jean-Michel Rozet

Our laboratory focuses on rare hereditary sensory disorders and mitochondrial diseases, often interconnected, with mitochondrial dysfunction playing a key role in sensory disorders and these diseases affecting sensory organs. These conditions significantly impact health, cognitive development, and social outcomes. The burden is compounded by overlapping conditions, low individual prevalence, and genetic heterogeneity, making the development of knowledge, diagnosis, and therapy particularly challenging. Our research aims to understand the underlying mechanisms of these diseases, improve diagnostic techniques for earlier detection and outcome predictions. We aim to bridge research with clinical practice, enhancing diagnostic and therapeutic strategies by: 

• Identifying new genes and unraveling disease mechanisms
• Developing in vitro and in vivo models to decode signaling cascades and explore actionable pathways
• Creating new diagnostic tools and biomarkers for personalized diagnosis, prognosis, and monitoring
• Developing innovative therapeutic approaches, from targeted therapies for specific genes or mutations to agnostic treatments 

Our work is supported by well-established patient cohorts and collaborations with leading experts. Our affiliation with national networks dedicated to rare diseases in Ophthalmology, Genetic Deafness, and Mitochondrial Disorders in France, along with our involvement in international networks and institutional boards, are strong assets to advance knowledge and develop novel therapeutic approaches.