Research Progress Report by Drs. Francesco Emma and Anna Taranta, Bambino Gesù Children’s Hospital

Researchers Francesco Emma, MD, Head Nephrology Unit, and Anna Taranta, PhD, Senior Research Associate, received grant funding in 2022 for their research on the “Impact of Diet Composition on Renal Function and Bone Disease of Ctns⁻/⁻ Mice.” The aim of their project is to define which dietary components are essential to develop a severe disease in mice, in order to test better potential treatments and to understand what dietary components cause damage to tissues which could pave the way for developing new therapeutic approaches in the future.

The Ctns-/- knock-out mouse model has been instrumental in the past years to increase the understanding of cystinosis and to develop new treatments. Recently, they have observed that a simple change in “standard diet” can modify substantially the severity of the disease in mice. This observation led them to hypothesize that differences in kidney and bone results between laboratories may be related to subtle differences in the composition of food that different animal facilities use. The purpose of this study is to understand which dietary components influence kidney and bone health to ensure homogeneity of results among other laboratories and to acquire new knowledge on the physiopathology of cystinosis. Download their recent progress report issued May 11, 2024.