Dr. Fagiolini received her M.S. in Biological Sciences from University of Pisa, Italy and her Ph.D. in Neurobiology from Scuola Normale Superiore, Italy. After completing a postdoctoral fellowship in Physiology at the University of California, San Francisco under the mentorship of Dr. Michael P. Stryker, she joined the Laboratory for Neuronal Circuit Development at the Brain Science Institute in Japan where she worked with Dr. Takao Hensch demonstrating how inhibitory circuits control the timing of expression of critical periods. She is now Associate Professor of Neurology at Boston Children’s Hospital. Her work employs the visual system as an entry point to understanding how excitatory/inhibitory neurocircuit imbalance may give rise to neurodevelopmental disorders and in particular Rett Syndrome and CDKL5 disorder.
Over the past years, her research has identified a visual phenotype in a mouse model of Rett Syndrome and demonstrated its rescue by targeting parvalbumin positive inhibitory neurons. These data support new potential drug intervention strategies for RTT in a clinical setting. In collaboration with the Rett Clinic at BCH and the laboratory of Cognitive Neuroscience, a similar visual phenotype was demonstrated in Rett Syndrome patients and that visual evoked potential could be used as a non-invasive and quantitative biomarker to follow the progression of the disorder and potentially response to treatment. Recently she is focusing new efforts in understanding how mutations in CDKL5 X-linked protein give rise to such a devastating neurodevelopmental disorder. Again, Dr. Fagiolini combines multidisciplinary approaches to this question and is working in close collaboration with the CDKL5 Center of Excellence at BCH and investigators across the world.