Identifcation and characterization of the cause of lipid metabolism disruption in patients with severe and unexplained familial dyslipidaemia

Rossi, Niccolò; Bourbon, Mafalda

http://hdl.handle.net/10400.18/3281

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Authors

Rossi, Niccolò

Bourbon, Mafalda

Abstract(s)

Objectives: The main objective of my work is to fill the gap existing between clinical and genetic diagnosis of dyslipidemia disorders and to get a deeper insight into its variability of expression through NGS, microRNA (miRNA) profiling and omic data integration approaches. Familial hypercholesterolemia (FH) is still largely underdiagnosed and undertreated: this work could greatly contribute to the early and definite diagnosis of the disease with a potential application for targeted therapy.