Denomination: Roman Catholic
- Head neurogenetics unit Computer Software Systems-Mendel Institute, Rome, since 2001. Associate professor medical genetics University Messina, Italy, since 2006. Consultant, neurogenetics Istituto di ricovero e cura a carattere scientifico San Raffaele Pisana, Rome, since 2000, Santa Maria Hospital, Terni, Italy, 2001—2006.
Achievements include research in identification of CEP290 gene as causative of a cerebello-oculo-renal syndrome. Research in characterization of the clinical and genetic basis of Joubert syndrome and related disorders. Research in characterization of the genetic basis and genotype-phenotype correlates in movement disorders.
Research in identification of PINK1 gene as causative of a form of autosomal recessive parkinsonism.