Full Professor of Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania “Luigi Vanvitelli”, Naples, Italy
Associate Investigator, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy
President, Campania Bioscience District
President (2025-2027), Italian Association of Myology (AIM)
Education summary
1987
Università di Napoli, Naples, Italy
Medicine, degree in Medicine and Surgery
Career summary
• Over three decades of academic leadership in medical genetics, focusing on neuromuscular diseases, particularly limb-girdle muscular dystrophies (LGMD), with early landmark work identifying delta-sarcoglycan and key mutations causing LGMD2F.
• Identification of genes responsible for multiple Mendelian neuromuscular and neurodevelopmental disorders (e.g., FG syndrome 4, LGMD1F, LGMD1G, cardiomyopathy in BIO14.6 hamster model).
• Principal Investigator or coordinator on numerous national and international research projects, including long-standing leadership of Telethon "Undiagnosed Disease Program" (2016–present), SOLVE-RD EU project partner, and coordination of Next Generation Sequencing Core at Tethon Institute of Genetics and Medicine (processed >25,000 exomes and genomes since 2011).
• Director of Medical Genetics and Cardiomyology Unit, AOU Policlinico Vanvitelli.
What is the personal or professional achievement you’re most proud of?
My role in the discovery of disease genes and joining Telethon activities
Why did you first join the WMS?
1996
What is your goal in joining the Executive Board?
Promote innovation in diagnostics and gene therapy to help set standards and best practices within WMS consortia and the broader community.
Support the training and mentoring of young researchers in the field, ensuring that the next generation of scientists and clinicians are equipped with both the technical knowledge and the collaborative mindset required for progress in medical genetics.
Strengthen the ties between clinical and basic research, facilitating the translation of scientific discoveries into bedside advances that improve patient care.
Uphold the values of equity, transparency, and inclusiveness in research and clinical trials, especially for rare disease patients across different regions.
I believe my experience as president of Italian Myology Association, my editorial roles, and my longstanding involvement in myology, give me an in-depth understanding of both the scientific and community-building aspects needed to help steer WMS toward its vision for the future.
