Primary Supervisor: Prof Eckhard Witten
Co-supervisor: Prof Antonella Forlino
Silvia obtained a Master’s Degree cum laude in Molecular Biology and Genetics from the University of Pavia, Italy. She spent two years for the internship of her experimental Master Thesis in the laboratory of Connective Tissue Disorders, Department of Molecular Medicine, of Professor Antonella Forlino, in Pavia.
Previously, she obtained a Bachelor’s Degree cum laude in Biotechnology from the University of Pavia.
SCIENTIFIC WORK EXPERIENCE
Her Master Thesis project was focused on the study of Osteogenesis Imperfecta (OI), a rare genetic disorder characterised by bone deformity, skeletal fragility and short stature. OI can be caused by dominant mutations in collagen type I genes or by recessive mutations in genes involved in collagen folding and post-translational modification. Silvia studied the collagen prolyl 3-hydroxylation complex, present in the endoplasmic reticulum and involved in the hydroxylation of specific proline residues in collagen type I α-chains. Three are the members of the complex, including Cartilage associated protein (CRTAP), Proline 3-hydroxylase 1 (P3H1) and Cyclophylin B (PPIB). Mutations in these proteins result in recessive OI type VII, VIII and IX, respectively. In order to deeply understand the disease mechanisms and to test novel pharmacological treatments, new in vivo models are required. To this purpose, Silvia contributed to the generation of knock-out zebrafish models for Crtap and P3h1 applying the CRISPR/Cas9 genome editing strategy. The characterisation of both models supported their goodness for studying OI type VII and VIII, respectively. This is how she became interested in zebrafish as model organism for skeletal diseases.
During Silvia's joint PhD between Ghent University, Belgium, and University of Pavia, Italy, she will study the effect of phosphate deficiency or oversupply on zebrafish skeleton, investigating the bone mineralisation process in healthy and disease conditions, taking advantage of the knock-out generated models.
During her research experience, she acquired several molecular biology and biochemistry skills, as well as embryos, larvae and adult zebrafish manipulation techniques.
Silvia won the position of Genetics Tutor for the Bachelor’s Degree in Biotechnology at the University of Pavia during the academic year 2017/2018.
She has many interests, including photography, traveling, skiing and hiking. She speaks Italian (mother tongue) and English and she has some knowledge of Spanish.