There was a talk at the Scuola Normale Superiore of Pisa on Wednesday 12 December on the topic of genetic diseases: Annalisa Pastore, full professor of molecular biology of the Scuola, spoke at a conference entitled “A detective job: the search for the causes of a rare disease”. This event is part of the Visions series of informative meetings, which aims to bring the general public closer to the themes of research and culture.

The lecture was focus on the research by Professor Pastore on Friedreich’s ataxia, a topic which she has worked on with her collaborators for 22 years. This neuro-degenerative disease leads to the progressive loss of voluntary movements, including walking and the ability to express oneself clearly. The study of the structure and function of proteins linked to this rare disease brings scientists closer to understanding the events that lead to the disease and will enable them to design appropriate therapeutic strategies.

Annalisa Pastore graduated in Chemistry and obtained her PhD at the University of Naples. After teaching in recent years at King’s College in London, she was the first woman to take up the role of full professor in the Scuola’s Faculty of Sciences. A member of the European Molecular Biology Organization (EMBO) since 2000, she mainly deals with investigating the molecular basis of muscular and neurological genetic diseases.