Giulia Frisso
MD, PhD
Associate Professor of Technical Sciences of Laboratory Medicine (SSD: MED/46)
Dept. Molecular Medicine and Medical Biotechnologies
University of Naples Federico II
1991: Master’s Degree in Medicine and Surgery with summa cum laude,
1996: Biochemistry and Clinical Chemistry postgraduate degree, summa cum laude,
2000: PhD in Biotechnology,
2000-2002: Post-doctoral fellow, Department of Biochemistry and Medical Biotechnologies, University of Napoli Federico II
2002-2011: Research Associate of Clinical Biochemistry and Clinical Molecular Biology (SSD BIO/12),
2009 until now: Medical Director of the “Development of innovative technologies for the laboratory diagnosis of inherited cardiac and neuromuscular diseases ” service sector of the “Azienda Ospedaliera Universitaria Federico II”;
2011 until now: Associate Professor of Technical Science of Medical laboratory (SSD MED/46)
The topics of study, research and skills fall within the areas of Clinical Biochemistry and Molecular Biology applied to the analysis of the molecular basis of inherited genetic diseases to unravel molecular pathogenesis, which can be targeted for new personalized therapies, and to perform innovative flow-chart of molecular diagnosis.
- Study of molecular bases and genotype-phenotype correlation of a variety of inherited genetic diseases, such as cardiomyopathies (i.e. Hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic cardiomyopathy) cardiac channelopathies (Long QT syndrome, Brugada syndrome), numerous inherited metabolic diseases (i.e. organic aciduria, beta-oxidation defects, urea cycle defects).
- Study of functional effects of variants of unknown significance (VUSs), by means mRNA analysis, immunochemistry, voltage-clamp techniques (also by international research collaboration).
- Sudden death in athletes: analysis of genetic risk factors
- Mazzaccara Cristina, Research Associate of Clinical Biochemistry and Clinical Molecular Biology (SSD BIO/12),
- Pricolo Maria Rosaria, PhD, attending the post graduate school of Clinical Pathology and Clinical Biochemistry
- Redi Adriana, attending the post graduate school of Clinical Pathology and Clinical Biochemistry
- Nolano Antonio, attending the post graduate school of Clinical Pathology and Clinical Biochemistry
- Mirra Bruno, attending the post graduate school of Clinical Pathology and Clinical Biochemistry
- Mazzaccara C, Limongelli G, Petretta M, Vastarella R, Pacileo G, Bonaduce D, Salvatore F, Frisso G. A common polymorphism in the SCN5A gene is associated with dilated cardiomyopathy. J Cardiovasc Med 2018 Jul;19(7):344-350.
- Frisso G, Detta N, Coppola P, Mazzaccara C, Pricolo MR, D'Onofrio A, Limongelli G, Calabrò R, Salvatore F. Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies. Int J Mol Sci. 2016 Nov 10;17(11). pii: E1883.
- Terrone G, Ruoppolo M, Brunetti-Pierri N, Cozzolino C, Scolamiero E, Parenti G, Romano A, Andria G, Salvatore F, Frisso G Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder. Neurology. 2014 Jan 7;82(1):e1-4.
- Detta N & Frisso G, Zullo A, Sarubbi B, Cozzolino C, Romeo E, Wang DW, Calabrò R, Salvatore F, George AL Jr. Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome. Int J Cardiol. 2013 May 10;165(2):362-5.
- Simonelli F, Frisso G, Testa F, di Fiore R, Vitale DF, Manitto MP, Brancato R, Rinaldi E, Sacchetti L. Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population. Br J Ophthalmol. 2006 Sep;90(9):1142-5.