• raffaella.cascella@unicamillus.org

Raffaella Cascella

Medical Genetics - MED/03


She obtained a Bachelor’s degree in Industrial Biotechnology where she delved in the production of diagnostics, therapeutics and vaccines at the University of Urbino “Carlo Bo”. During her Master’s Degree in Genomic Biotechnology she presented her thesis entitled “Mutational analysis of the FLG gene in Italian patients with Atopic Eczema. Case-control study and genotype-phenotype correlation” at the University of Rome “Sapienza”.

Her PhD in Advanced Technologies in Biomedicine is entitled “Genetic characterization of Age-related Macular Degeneration: clinical and molecular basis for the development of a predictive test” at University of Rome Tor Vergata. There, she tried to learn more about the molecular characteristics of Age-related Macular Degeneration (AMD). There she found out several genomic and non-genomic risk factors associated with AMD.

She obtained her specialization in Medical Genetics from the University of Rome Tor Vergata, where she developed and validated two computational systems to be applied in clinical practice for the implementation of precision medicine protocols.

She has been trained professionally at the Genetic Medicine Laboratory at the University of Rome Tor Vergata. She is professor of Medical Genetics and she has also been qualified for the position of Associate Professor in MED/03. Research activity is focused on genomic and personalized medicine applied to hereditary-familial and multifactorial genetic diseases. The main genetic disorders studied are: Age-related Macular Degeneration, Psoriasis, Psoriatic Arthritis, Atopic Eczema, Alzheimer’s Disease, Parkinson’s Disease, Facio-Scapulo-Humeral Dystrophy. In particular, her research focuses on the study of numerous ocular diseases with the aim of identifying diagnostic, predictive, prognostic and pharmacogenomic biomarkers to apply in the clinical practice. Her scientific projects have been funded several times by the Italian Ministry of Health and other organizations.

She is author and co-author of several scientific papers published in international journals with high scientific impact and she is a Member of the Italian Society of Human Genetics (SIGU).