Nicola Brunetti-Pierri

Nicola Brunetti-Pierri

Molecular Therapy

Inborn Errors of Metabolism


Phone +3908119230661


As a paediatrician and geneticist, the overall goals of my research are to understand how defects in biochemical pathways result in disease and to develop novel therapeutic approaches for inborn errors of metabolism.

Additional Funding
  • Understanding the pathomechanisms underlying PH3 (2018-2020), Hyperoxaluria and Oxalosis Foundation 
  • Phenylbutyrate Therapy in Mitochondrial Diseases with lactic acidosis: an open label clinical trial in MELAS and PDH deficiency patients (2019-2021), Italian Ministry of Health
  • AFM - Gene therapy for Wolman disease (2022-2023)