Since the original discovery of the first mutations affecting mitochondrial DNA in 1988, Professor Valerio Carelli’s career has been dedicated to the study of mitochondrial medicine, with particular reference to mitochondrial optic neuropathies.

LHON has been the first topic explored over 25 years, unwrapping the different layers of the pathogenic mechanism; first investigating the Complex I dysfunction due to LHON mutations, then studying the cell biology of LHON through the model of cybrids. The histopathology of LHON was further investigated under the guidance of Professor Alfredo A. Sadun of Los Angeles, CA, USA, and the first genetic mouse model generated by Professor Doug Wallace was phenotyped.

In 2001 Professor Carelli returned to Italy and took over the Laboratory of Neurogenetics in the Department of Neurological Sciences at the University of Bologna, diagnosing mitochondrial patients and building the clinical cohorts of LHON and DOA; work which now continues at the new IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital. Currently, molecular and cellular biology research is carried out at the renewed laboratory of neurogenetics, and clinical translational research thanks to the dedicated clinic of neuro-ophthalmology.

Professor Carelli’s research group, uniting the basic science and clinical teams, is composed of four PhDs, three lab technicians, and three MDs (two neurologists and one ophthalmologist). This team enjoys extensive collaborations in Italy and abroad, in particular the rest of Europe and the USA.