Introducing Giulia Florio DC2

My PhD goals: Research project DC2 aims to utilize advanced 2D and 3D cellular models (kidney organoids and tubuloids) to unravel disease modelling and fully characterize tubulopathies.

My Background: During medical school, I gained interest towards nephrology and started an internship in the ERKNet center clinic for tubulopathy and rare kidney diseases in Naples, led by Prof. Francesco Trepiccione. During these years, his translational approach inspired me to approach fundamental research and I had my first research experience in his Translational Nephrology lab in Biogem. After obtaining my medical degree, I had the opportunity to join Staiano Lab in Tigem, where I learned primary cell culture from urine of patients, especially those affected by Fanconi Bickel Syndrome.

My research interests: As a fundamentally “nephrophysiologist”, my interest lies in advanced in vitro cellular models that promise to recapitulate patient’s physiopathology, paving the way for a more robust translational approach. The promise of personalized medicine and finer models for disease phenotyping, especially for distal tubulopathies, are particularly attracting to me.

My hobbies: Playing board games, petting cats, taking long walks in the nature and making pizza!

Master thesis: Identification of a novel form of hypomagnesemia associated with cardiomyopathy

The autosomal dominant kidney hypomagnesemia with cardiomyopathy (ADKH-RRAGD) is a recently characterized genetic disorder that predominantly impacts kidney and heart function. Mutations in the RRAGD gene significantly impair the non-canonical pathway of the mechanistic target of rapamycin complex 1 (mTORC1) signalling, thereby preventing the nuclear localization and transcriptional activity of transcription factor EB (TFEB), a critical regulator of lysosomal and autophagy-related functions.