Affiliation: Bambino Gesù Children’s Hospital, Italy, Genetics and Rare Diseases Research Division, Unit of Neuromuscular and Neurodegenerative Disorders

Dr. Sferra graduated from the University of Rome “La Sapienza” in 2009 with a master’s degree in Genetics and Molecular Biology. In 2013, she earned her PhD in Cellular and Molecular Biology from the University of Rome “Tor Vergata”. She is currently a post-doctoral fellow in the laboratory of Molecular Medicine of the Professor Enrico Bertini at the Bambino Gesù Children’s Hospital. Her research activities are directed to understand the pathogenic mechanisms associated to tubulinopathies, a wide class of neurological diseases caused by alteration in microtubule functional activities. In particular, her research aims to define genotype-phenotype correlations of tubulin mutations associated to malformative and neurodegenerative tubulinopathies, using different in vitro cell models, such as transfected cells, patient’s primary fibroblasts, and human induced pluripotent stem cells. Recently, she described the first mutations in TBCE and TUBB2A genes causing in humans two form of neurodegenerative tubulinopathies. In 2019, she has been awarded the “Young Reserachers Grant” from the Italian Ministry of Health for her studies on these class of pathologies.