Alice obtained her Bachelor’s and Master’s degree respectively in Biotechnologies and Neurobiology at Sapienza University in her hometown of Rome, Italy. Guided by her scientific curiosity, she joined the University of Trento for her M.Sc. thesis project to work on the optimization of protocols for the conversion of hiPSCs into functional spinal motor neurons and on the application of these tools to set-up a human in vitro model of Spinal Muscular Atrophy (SMA). After getting her M.Sc. and winning an Erasmus+ post-graduation scholarship, she worked at Curie Institute in Paris on a project aimed at studying the characterization of acentrosomal microtubules organizing centers (MTOCs) in neural stem cells during mouse and human cortical development. In this occasion, she remained really captivated by the way in which is conceived doing science in an international environment. She is now pursuing a PhD at Imagine Institute based in Paris, France, an Institute dedicated to the study of genetic diseases where she joined a laboratory which uses in vitro and in vivo approaches to characterize the effects and mechanisms of action of new molecules on a model of nephronophthisis (NPH).

Abstract
Nephronophthisis (NPH), a genetically heterogeneous kidney disorder characterized by interstitial fibrosis and tubular cyst formation, is one of the major causes of end-stage renal disease (ESRD) in children.  Based on a large cohort of NPH patients and a combination of targeted and/or whole exome sequencing, the host laboratory participated in the identification of 12 of the 22 NPH causative genes known to date. Almost all the proteins encoded by these genes (NPHP) localize at the primary cilium, a sensory organelle present at the cell surface that controls key signaling pathways. NPH is therefore classified among ciliopathies a group of diseases link to primary cilia dysfunctions. 

Interestingly, 30% of the NPH patients carry biallelic mutations in NPHP1, which correspond to a complete loss of the gene in most cases.  Therefore, the host laboratory has developed strategies to identify molecules able to rescue ciliopathy phenotypes in two NPHP1 knockdown renal cell lines and identified interesting molecules from a FDA-approved library. The aims of Alice’s project are to validate these molecules in patients derived renal cell lines (URECs), to characterize their mechanism of action and finally to perform in vivo experiments in zebrafish and mouse models of NPH as well as in patients derived organoids to validate these in vitro observations and the use of one of these molecules as a potential new therapeutic approach for NPH.