Dr. Fabiana Fattori

I'm a biologist with expertise in molecular biology and genetics of neuromuscular and neurodegenerative disorders. I started my research activity in 2004 from the training course for master degree thesis in Molecular medicine Laboratory of Bambino Gesù Pediatric Research Hospital in Rome focusing her studies on the genetic basis of neuromuscular diseases. I gained experience in the field of mitochondrial diseases during PhD, in collaboration with Bambino Gesù Pediatric Research Hospital and “Roma Tre University” , with particular attention to molecular and functional study of patients with mitochondrial diseases. During the Post-Doc period (years 2010-2019) my research activity was mainly focused on the genetic characterization of patients with congenital myopathy and congenital muscular dystrophy using Next Generation Sequencing techniques (design of custom panels with selected genes, Whole Exome Sequencing analysis and use of bioinformatics software in order to select candidate genes). Currently, after post graduate specialization in Medical Genetics in 2017, I'm involved in the genetic diagnosis of patients with hereditary myopathy / dystrophy / neuropathy referred to Bambino Gesù Pediatric Hospital in Rome.