Brunella Franco, MD, PhD
Principal Investigator, Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Full Professor, Department of Translational Medical Science, University of Naples “Federico II”, Naples, Italy
I have been involved in the study of rare inherited disorders for my entire scientific career. I will use the example of a rare mitochondrial disorder, microphthalmia with linear skin lesions (MLS) syndrome, to demonstrate how much can one discover in both medical genetics and basic biology by studying such rare conditions. I will show the identification of two genes responsible for this condition that, also thanks to the characterization we provided, has now been renamed. I will also demonstrate how we identified a new apoptosome independent cell death pathway that is involved in the pathogenesis of the disease. Finally, I will describe how the curiosity driven scientific discussion of two talented postdoctoral fellows started a new line of research that resulted in the identification of gene-independent therapeutic targets for a wide-range of neurodegenerative disorders caused by mitochondrial dysfunction.