Antonia Ratti

Antonia Ratti is Associate professor in Medical Genetics at University of Milan and has been working on ALS disease for 20 years with Prof. Vincenzo Silani. She is part of the Italian SLAGEN Consortium to study ALS genetics She coordinates the ALS Repository of the Neurology Unit at Istituto Auxologico Italiano, an Italian referral clinical Centre for ALS, which collects multiple biological materials (DNA, serum/plasma, CSF, fibroblasts) from patients and provides NGS genetic testing.

Her research activity is focused both on the definition of the genetic bases of the disease in its familial forms by WES/WGS and of the sporadic forms by GWAS, and on the study of pathomechanisms associated to TDP-43 and C9ORF72. Her group was the first one to demonstrate TDP43 recruitment to stress granules upon sub-lethal environmental insults in 2009 and that this cell response may be a trigger for the formation of TDP-43 pathological aggregates in condition of a more chronic oxidative stress as in ALS. She uses patient-derived fibroblasts and iPSC-motoneurons/brain organoids to study TDP-43 proteinopathy and to test therapeutic approaches.