Full Professor

Full professor of Medical Genetics at the Department of Precision Medicine of the University “Luigi Vanvitelli” of Naples, and PI of the Institute of Genetics and Medicine of Telethon (TIGEM). Born in Naples on 28 July 1960, he graduated with honors in Medicine and Surgery. University researcher since 1992, associate professor since 2000 and full professor since 2006. In 1982-1990, he was at the Institute of General Pathology and Oncology, as a student and then with an Association for Research on Cancer (AIRC) fellowship, aimed at studying the mechanism of action of the estrogen receptor. From 1989 to 1994 he was at the International Institute of Genetics and Biophysics (IIGB), CNR, Naples with Edoardo Boncinelli (developmental biology, identification of transcription factors that regulate embryogenesis and brain formation). Since 1992, his research group has been involved in the study of muscular dystrophies. He has published 317 articles in peer reviewed journals indexed by Scopus and received numerous competitive grants. Among the most significant findings, the identification of delta-sarcoglycan and mutations that cause track muscular dystrophy (LGMD2F), the identification of the gene that causes hamster cardiomyopathy BIO14.6, a leading experimental model. Furthermore, he identified the causes of other Mendelian disorders, such as FG 4 syndrome, LGMD1F, etc. He has conducted research projects on gene therapy
delta-sarcoglycanopathy and on the identification and classification of new causes of genetic myopathies using Next Generation Sequencing (NGS) technology. He directs the Medical Genetics and Cardiomyology UO of the AOU Policlinico Vanvitelli. He is coordinator of the Telethon Diseases program “without diagnosis” which aims to identify new genetic disorders in children with syndromic and neuromuscular genetic diseases.
E’ Member of WMS, SIGU, ESHG, AIM and part of the CMS of UILDM E’ coordinator of the GENERA Project and member
of the Undiagnosed Disease Network International. E’ the President of the Campania Bioscience District and Delegate for University Teaching. E’ the president of AIM (Italian Association of Myology) for the three-year period 2025-2027.