Dr Patrizia Spadafora


Researcher at Insitute for Biomedical Research and Innovation.
Graduated in Biological Sciences in 1993, at the University of Calabria and specialized in Biotechnological Applications at the University "La Sapienza" of Rome, in 1997. She leaded the research activity in the Human Genetics Laboratory of the Department of Cell Biology-University of Calabria and since 1996 she has been working at the CNR as researcher. Since the beginning of her activity she has been interested in the genetic study of subjects suffering from hereditary diseases of the nervous system, genotype and phenotype correlation, linkage analysis, identification and study of polymorphic variants predisposing to the onset of neurodegenerative diseases using advanced molecular biology technologies. Her research activity is focused on identifying new genes and variants responsible for neuromuscular diseases using customized NGS panels. Another field of interest is the study of Tay Sachs in Calabria, a lysosomal storage disease. Since 2007 she has been conducting service activities for the specialist genetic assistance for Duchenne / Becker Muscular Dystrophies, type 1 Myotonic Dystrophy, Limb Girdle Muscular Dystrophies with autosomal dominant and recessive transmission, Tay Sachs disease, at the Institute for Biomedical Research and Innovation-CNR headquarters of Mangone. She has always been interested in the dissemination of scientific culture, in the context of the week of Telethon, of the European Biotech week, open doors for schools, in the European week of Jewish culture. Tutor of experimental theses and post-graduate internships. She has numerous scientific collaborations and a good number of publications in international journals.