Modelli preclinici di malattie rare e terapie innovative - Gruppo di Ricerca

About 3.5%-5.9% of the worldwide population is currently affected by rare diseases that for 72% are caused by genetic defects and for the rest by infectious, allergies and environmental factors. Over 6000 different rare diseases are known so far, but due to the low prevalence of each of them, medical expertise is underdeveloped, knowledge is scarce, care offerings inadequate and research limited. 

In our UOR a multidisciplinary team is focus on the study of rare diseases taking advantage of molecular, biochemical, physiological and pathological complementary expertises and cutting-edge- technologies linking clinical to basic sciences for the benefit of patients.

Starting from a patient center view, our research is dedicated on the generation of in vitro and in vivo models of rare diseases. The most recent gene editing techniques as well as deep molecular, biochemical and high-resolution imaging characterization will be employed, thanks to the availability of state-of-the-art aiming to identify new targets for the development of innovative and precision medicine based therapies.