Dr Carmela Zizzo



Education: Degree in Biotechnologies (3 years program) and in Medical Biotechnologies and Molecular Medicine (2 years program).
Ph.D. in “Biopathology” (3 years program).
Author of several papers published in peer-reviewed journals, in some of which she is first author and corresponding author. Participant and speaker in several National congress and Participant in several International congresses. Winner of the "PhD and Young Researchers Initiative" competition within the "4th European Fabry Expert Lounge" with the presentation "MicroRNAs: novel markers for Fabry disease?" organized at Amsterdam in March 2016.
Researcher at the Institute for Research and Biomedical Innovation (IRIB) of the National Research Council of Italy (CNR), Palermo.

Research activity
- Study of genetic and enzymatic alterations in lysosomal storage diseases (Anderson-Fabry disease, Gaucher disease, Pompe disease).
- Study of the pathophysiology of lysosomal storage diseases
- Search for new biomarkers for the early diagnosis and prognosis of lysosomal storage diseases: microRNAs
- Misdiagnosis: diagnostic errors in patients suffering from lysosomal storage diseases.
- Screening in high-risk populations for lysosomal storage diseases.


- Service contract for enzymatic and genetic investigations with the Sanofi Aventis Company. Funding Source: Genzyme/Sanofi. [2019-2021]