…TIMESLOT: Thursday 28 January 2027, 16:00 CET
…MAIN TITLE: Neuropathies with Repeat Expansions: RFC1
…PRESENTERS: Prof. Andrea Cortese University College London, Department of Neuromuscular Diseases, UK
…MODERATOR: TBA
Prof. Andrea Cortese is a neurologist and researcher specialising in neurogenetics and inherited peripheral neuropathies. He is a Professorial Research Fellow at the UCL Queen Square Institute of Neurology, University College London, and is also affiliated with the University of Pavia, Italy.
His research focuses on identifying genetic causes of neuromuscular disorders, particularly repeat expansion diseases and Charcot-Marie-Tooth disease (CMT). His major contributions include the discovery of RFC1 repeat expansions as a cause of CANVAS syndrome and the identification of SORD mutations as a frequent cause of recessive CMT, paving the way for targeted therapeutic approaches. He also serves on the Charcot-Marie-Tooth Research Board of the Peripheral Nerve Society.