Only scientific research, combined with the sense of solidarity of those who support us, can give a smile of hope to those affected by a mutation of the RBCK1 gene. A disease for which there is currently no cure.
Care that can only be conceived and developed thanks to constant research work.
Neurologist and Myopathologist specialist in Neuromuscular Diseases at the Henri Mondor Hospital of the Paris EST University.
After specialization at the University of Siena and at the Besta Neurological Institute in Milan, he carried out a PhD at the Oppedale Pitié-Salpêtrière, Sorbonne University in Paris. During his PhD he contributed to the identification of new genetic myopathies. In 2015 he won the President Prize of the World Muscle Myology as Myologist of the Year. During the Postdoc in Sweden, at the Salghreska Academy, he identified a new glycogenosis and was involved in studying various diseases with polyglucosan bodies. In 2019 he organized the ENMC International Workshop on Polyglucosan body myopathies, including RBCK1 myopathy.
The My Perfect Mistake Association has funded the Seed Grant program promoted by Telethon. The initiative, which will conclude in December 2025, aims to finance annual research projects. These calls provide the opportunity to generate data and create new knowledge to pave the way for the development of new therapeutic approaches.
Understanding the mutations and their related developments may be the turning point in treating children affected by type 1 polyglucosan body myopathy. Given the results achieved so far, we now need to do even more: let’s continue supporting research together.
