PhD Sabrina Capelletti


In March 2022, I obtained my M.Sc. degree in Biotechnology and Medical Biology from the Vita-Salute San Raffaele University, Italy. During my thesis internship I worked on a possible gene therapy approach  for Dravet Syndrome, a rare neurodevelopmental disorder. After the graduation I moved to Basel to continue my scientific journey in the Neuroscience and Rare Disease Department at Roche where I focused on the development of an in vitro model of human astrocytes for Alzheimer’s disease research. Currently, I’m a Ph.D. student at CCB under the supervision of Dr. Manuel Gonçalves supported by a Marie Skłodowska-Curie ETN-training network grant under the Horizon Europe consortium GetRadi - “Gene Therapy of Rare Diseases”. My research focuses on the development of adenoviral vector-based gene therapy strategies  for Duchenne Muscular Dystrophy.



Rapid advances in genome and epigenome editing are contributing to broaden the range of candidate genetic therapies for inherited disorders including Duchenne Muscular Dystrophy (DMD), a lethal muscle-wasting disease caused by mutations in the large dystrophin-encoding DMD gene in the chromosome X. Recently, double-strand DNA break (DSB)-free technologies are opening the perspective for precise (epi)genome editing while minimizing unwanted off-target and on-target genomic effects. During my Ph.D., I’ll investigate the possibility of dystrophin complementation in human cells exploiting DSB-free technologies delivered by high-capacity adenovector particles (AdVPs). In particular, my research plan focuses on: (i) exploring innovative epigenetic modulators for upregulation of the dystrophin paralogue utrophin, (ii) exploring different DSB-free technologies to rescue dystrophin expression; and (iii) demonstrate functional rescue of disease traits at the cellular level upon AdVP-mediated DMD gene complementation or repair  using skeletal muscle cells and iPSC-derived cardiomyocytes as model systems


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