22 November 2021

1. Tell us a little bit about yourself

Soon after my residency programme in Pisa (Italy) (2000) I had the privilege to work for three years at Dr. DiMauro’s Lab at Columbia University, NY, dealing with mitochondrial diseases and neurogenetics. Since then, mitochondrial diseases are still my passion. I returned to Italy in 2004; in Pisa I lead the outpatient neurogenetics service at the Neurological Institute of the University of Pisa, and I am the speaker of the Italian Network for mitochondrial diseases, founded in 2009. I’m also leading the Neurogenetics Panel of the European Academy of Neurology, and the Neurogenetics and Rare Neurological Diseases Group  of the Italian Society of Neurology.

2. What is your role in Euro-NMD ?

I work with Professor Siciliano at the HCP Azienda Ospedaliero Universitaria Pisana,  reference center for diagnosis and therapy of neuromuscular diseases, including mitochondrial diseases. Since June of this year, I have the honor to be chairman of the Mitochondrial Group of the ERN-NMD, together with Cornelia Kornblum, and I’m also coordinating the new InterERN group on mitochondrial diseases (ERNs NMD, EYE, RND).

3. What are your expectations in the network ?

I’m sure this Network will help the maneinance of the great work already done by Rita Horvath. We will keep working together to guarantee the expansion of the numbers of centers of excellence for both care and research in Mitochondrial Diseases across Europe.  We are planning educational initiatives to improve the awareness of mitochondrial diseases and, finally but not less importantly, to better define diagnostic criteria and outcome measures for natural history studies and eventually clinical trials.