Isabella Ceccherini, PhD in Genetics, is Head of the Unit of Genetics and Genomics of Rare Diseases of the Giannina Gaslini Institute, a pediatric hospital in Genoa, Italy. Her research interests focus on the study of human rare diseases to develop in vitro models and therapeutic solutions and to search for new disease genes using next generation sequencing applications. She has been studying the genetics of Hirschsprung Disease for nearly 30 years, the neurocristopathies being one of her most relevant fields of interest.