The group focuses its efforts on unravelling the pathophysiological mechanisms of rare diseases, mainly progeroid processes and neuromuscular diseases. This research helps to understand the process of organic ageing.

We have provided a new animal model of Charcot-Marie-Tooth disease and contributed to a better understanding of the relationship between oxidative stress and gene regulation mechanisms modulated by epigenetic factors. Down's syndrome, the disease that most frequently develops mental deficiency, has also been approached from the perspective of changes in cell turnover processes, contributing to elucidating its pathophysiology. In Lafora disease, which has a poor prognosis, we have described the presence of oxidative stress and the lack of antioxidant defence.

Contributor

• Carla Giménez Garzó - Research Foundation of the University Clinical Hospital of the Valencian Community

Specialist medical practice activities