Peripheral Nervous System
The research studies neuromuscular diseases of the neuromuscular synapse or muscle. Muscle diseases include Duchenne and Becker muscular dystrophy (D/BMD), Facioscapulohumeral muscular dystrophy (FSHD), and Limb Girdle Muscular Dystrophy (LGMD). Synaptic diseases include myasthenia gravis and Lambert-Eaton myasthenic syndrome.
Aside from these motor system diseases, also one sensory degenerative disease is included, that studies cochlear implants. The research aims to identify disease mechanisms, perform natural history studies, develop drugs and serum and imaging biomarkers, and improve prediction modelling and cochlear implants (for hearing loss), with the ultimate aim to optimize clinical care.
The Ambassadors of the subtheme are Dr. Pietro Spitali, Dr. Maaike van Putten, Dr. Heiko Locher