Jean-Michel Rozet

Jean-Michel Rozet is the Team Leader of a research group focused on genetic mechanisms underlying rare hereditary sensory disorders and mitochondrial diseases. His work bridges clinical practice and research to improve diagnostics and therapies, supported by collaborations with national networks in France and international institutions. The team investigates genetic mutations in conditions affecting vision, hearing, and mitochondrial function, aiming to develop novel diagnostic tools and targeted treatments.

Research priorities include identifying disease-causing genes, modeling pathogenic mechanisms in vitro and in vivo, and translating findings into clinical applications. Key areas of study involve ciliopathies, retinal dystrophies, and optic neuropathies. The team leverages patient cohorts and advanced genetic technologies to uncover genetic heterogeneity and therapeutic targets.

• Key Focus Areas: Retinal degeneration, mitochondrial dysfunction, ciliopathy syndromes, and neurodevelopmental disorders
• Clinical Translation: Developing biomarkers for personalized medicine and gene therapy applications
• Collaborations: National networks for rare diseases (Ophthalmology, Genetic Deafness, Mitochondrial Disorders) and international consortia

Publications highlight breakthroughs in understanding genetic variants linked to sensory organ defects and mitochondrial disorders, with recent work emphasizing therapeutic interventions and disease mechanisms in ciliopathies.