A native of Italy, she has been Professor in Molecular Basis of Neurodegeneration at Kings College London, UK, since 2013. Her focus is on understanding the molecular mechanisms of Friedreich’s ataxia, a neurodegenerative disease progressively leading to a loss of coordination and speech difficulties. She says in her work, she relies on Nuclear Magnetic Resonance (NMR) to identify the structures of proteins involved in the disease messaging pathways.
She explains what initially attracted her to this field: “I certainly fell in love with the double helix story when I was 17,” she said. Now, combining theoretical and experimental work, she relies on techniques that are mostly biophysical to elucidate the structure of very proteins that were “one of the loves of her youth.”
Her current work was initiated following the discovery, in 1996, of the human frataxin gene associated with Friedreich’s ataxia. “One of the most beautiful things that we have been doing was, really, to understand the link between frataxin and [its role in] the iron-sulfur cluster pathway, she said.
This led her to—at least partially— identify the role of the protein, resulting from the expression of frataxin, in the disease mechanism. These findings could ultimately open the door to designing a new strategy to treat Friedreich’s ataxia, and other neurodegenerative diseases.