Alice obtained her Bachelor's and Master's degrees in Biotechnologies and Neurobiology, respectively, from Sapienza University in her hometown of Rome, Italy. Driven by her scientific curiosity, she pursued her M.Sc. thesis at the University of Trento, where she focused on optimizing protocols to convert hiPSCs into functional spinal motor neurons and applying these tools to establish a human in vitro model of Spinal Muscular Atrophy (SMA). Following her M.Sc., Alice was awarded an Erasmus-Unipharma post-graduation scholarship and joined the Curie Institute in Paris. There, she worked on a project aimed at characterizing acentrosomal microtubule organizing centers (MTOCs) in neural stem cells during mouse and human cortical development. This experience deeply inspired her, particularly the approach to science in an international setting. In line with her research interests, Alice joined the Laboratory of Hereditary Kidney Diseases at the Imagine Institute (Paris, France) on October 19, 2020, as a SCilS PhD candidate.

She successfully defended her Ph.D. dissertation on December 11, 2023, presenting her project titled: “Eupatilin and agonists of prostaglandin receptors as therapeutic approaches for juvenile Nephronophthisis: characterization of their effects on ciliogenesis and shared mechanisms of action.” This research was carried out in the Laboratory of Hereditary Kidney Diseases at the Imagine Institute. She was awarded a Ph.D. in Molecular and Cellular Biology from the University of Paris Cité.

Since January 2024 she has been awarded a postdoctoral fellowship at the NeuroEpigenetics Laboratory of University of Trento, where she is currently working on SINEUP RNAs and their potential application for treating haploinsufficiency in Autism Spectrum Disorders (ASD).

What does Alice say about our program?
I am incredibly thankful to the PhD training program and the SCilS Network for providing me with such a life-changing experience. The SCilS community, made up of brilliant researchers and wonderful people, has been an incredible source of inspiration and support. Our shared experiences helped us grow both professionally and personally. The opportunity to travel between laboratories further enriched the experience, facilitating collaboration and accelerating the progress of our projects. This program has been an ongoing source of invaluable learning. While there were inevitable challenges along the way, I have no regrets since this experience has provided me with a wealth of knowledge, unforgettable memories, and meaningful connections that I couldn't have found elsewhere. I am deeply grateful for everything the SCilS program has offered me.

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.

We want you to understand!

Layman abstract

Nephronopthisis: an hope in new pharmacological compound. 

Nephronopthisis is a genetic pathology of the kidney which causes problems with urine production. This disease causes end-stage renal failure and kidney transplant is the only solution at present. Most of the genes associated with this disease are involved with the formation of cilia, long hair-like structures on the surface of the cells. In my study I am focusing on nephronopthisis in children, which is the most common form of nephronopthisis. Childhood nephronopthisis is caused by the NPHP1 gene. We screened more than 1000 molecules and found one molecule that helped cells recover from defects in their cilia. The aim of my project is to look for other promising molecules from this screen and to test them in fish.

You can also watch a 55-sec video which Alice created to describe her research here: YOUTUBE or with others on our website here.