…TIMESLOT: Thursday 28 May 2026 16:00 CEST
…MAIN TITLE: PLIN4 Disease: A New Piece in the Distal myopathies Puzzle
…PRESENTERS: Dr. Alessandra Ruggieri & Dr. Lorenzo Maggi (Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy)
Dr. Ruggieri is a healthcare researcher at the Fondazione IRCCS Istituto Neurologico Carlo Besta, where she investigates muscle diseases with the aim of understanding their pathogenic mechanisms and identifying novel therapeutic strategies to improve patients’ quality of life.
She obtained her degree in Biological Sciences from the University of Milan and her PhD in Molecular Genetics, Biotechnology, and Experimental Medicine from the University of Brescia. She began her research career in 2005 as a fellow at the Fondazione IRCCS Istituto Neurologico Carlo Besta, focusing on dystroglycanopathies in the Translational Research Laboratory on Muscle Diseases. From 2008 to 2013, she worked in the Department of Genetics and Genomics at The Hospital for Sick Children in Toronto, Canada, where she further developed her expertise and acquired advanced genetic techniques, with a particular focus on autophagic vacuolar myopathies. Upon returning to the institute in 2014, she leveraged these skills and international collaborations to identify a novel gene responsible for a dominant form of distal vacuolar myopathy. She has since continued to expand her research on muscle disorders, applying her multidisciplinary expertise.
Throughout her career, Dr. Ruggieri has developed strong expertise in cellular and molecular biology, genetics, histopathology, and imaging, which she integrates in her study of muscle diseases. She has a particular focus on autophagic vacuolar myopathies, contributing to the elucidation of pathogenic mechanisms and genotype–phenotype correlations in conditions such as XMEA and DNAJB6-related myopathy. She also coordinated a project that led to the discovery of PLIN4 as a novel disease gene through an integrated multi-omics approach. This work enabled her to extend her research to the mechanisms of aggrephagy across a broader class of muscle disorders, namely protein-aggregate myopathies. Her research ultimately aims to advance diagnostic strategies and develop targeted therapies to improve patient outcomes.
As Principal Investigator (PI) or Co-PI, she leads research projects funded by national and international agencies and supervises PhD students, graduate trainees, and junior researchers. She has authored numerous articles in peer-reviewed, indexed journals (ORCID ID 0000-0002-2777-6226).
Dr. Maggi is a neurologist specialized in neuromuscular disorders at Fondazione IRCCS Istituto Neurologico Carlo Besta, where he leads a clinical and research team involved in diagnosis, care, and clinical trials. He coordinates several Italian networks on congenital myasthenic syndromes, myofibrillar and distal myopathies, and adult SMA, and is part of the coordination board for the Italian Network of Laminopathies. At the European level, he co-leads the Neuromuscular Junction Working Group within the ERN-NMD and is active in various ERN and EAN committees. He also serves on the board of the Italian Association of Myology and the Editorial Board of Neuromuscular Disorders.