Dr Paolo Colomba


Researcher at the Institute for Research and Biomedical Innovation (IRIB) of the National Research Council of Italy (CNR), Palermo.
Degree in Biological Sciences (5 years program).
Ph.D. in “Experimental Oncobiology” (3 years program).
Postgraduate diploma in “Clinical Pathology” (5 years program).
Postgraduate Master’s degree (2 years program) in “Biotechnologies: Applied Research, Management and Business”.
Scientific experience in the fields of oncobiology and lysosomal storage disorders. At the “Research and Diagnosis Center for Lysosomal Storage Disorders” he is involved in the study of genetic and enzymatic alterations, and he is coordinator for the Project concerning studies on Anderson-Fabry disease. Author of several papers published in peer-reviewed journals
Teaching experiences as Contract Professor at the Faculty of Medicine and Faculty of Engineering of the University of Palermo.

  • Study of genetic and enzymatic alterations in lysosomal storage disorders (Anderson-Fabry disease, Gaucher disease, Pompe disease): case finding.
  • Study of pathophysiology of lysosomal storage disorders
  • New biomarkers for early diagnosis and prognosis of lysosomal storage disorders: microRNAs
  • Misdiagnosis: diagnostic errors in patients suffering from lysosomal storage disorders
  • Screening in high risk populations for lysosomal storage disorders
Funded Projects Service contract for enzymatic and genetic investigations with Società Sanofi Aventis Company. Fund: Genzyme/Sanofi. [2019-2021]