Pietro Spitali, PhD

Dr. Pietro Spitali is an assistant professor in the DMD Genetic Therapy Group. He has been interested in Duchenne muscular dystrophy (DMD) since his first internship as laboratory technician in the laboratory headed by Dr. Alessandra Ferlini at the University of Ferrara (Italy) in 2003. He contributed to the development of antisense oligonucleotides mediated exon skipping for private mutations and to a better understanding of the transcriptional regulation of the DMD gene. After obtaining his PhD in Ferrara in 2010 he moved to the DMD genetic therapy group headed by Dr. Annemieke Aartsma-Rus at the Leiden University Medical Center in the Netherlands, first as post-doc researcher and since 2014 as assistant professor. His work focuses on the identification of –omic biomarkers in patients affected by muscular dystrophies and especially Duchenne. Pietro has authored 20 publications (8 as first or last author) and 1 book chapter. He has obtained research grant funding from amongst others Prinses Beatrix Spierfonds, Association française contre les myopathies (AFM) and Dutch Duchenne Parent Project. He was involved in the FP7 funded Bio-NMD project and currently participates in the NeurOmics project (www.rd-neuromics.eu). He coordinates an AFM funded consortium to identify these molecular signatures in body fluids. He also leads a research project to identify the cause of dystrophin transcript instability in DMD patients. He is a member of COST Action BM1207 (www.exonskipping.eu); he recently organized and coordinated a workshop for this Action on the harmonization of exon skipping quantification across laboratories. Pietro is an active reviewer for prestigious journals and funding agencies.

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