Giulia is a young researcher from Italy and she holds a Bachelor’s degree in Biotechnologies at the University of Modena and Reggio Emilia and a Master’s degree in Medical and Pharmaceutical Biotechnologies at the University of Trieste. During her studies she developed a strong interest towards genetics and pathology, which she was able to follow thanks to several laboratory internships performing research on genetic diseases. During her time at the Genetics Immunology laboratory of the IRCSS Burlo Garofolo Maternal Institute (Trieste, Italy) she approached the field of immunology and translational research whereas thanks to a mobility exchange at Institut Mondor of Biomedical research (Créteil, France) she focused on genome editing techniques and cellular models. Pursuing her research interests, Giulia started as a SCilS PhD student in the laboratory of hereditary kidney diseases at Imagine Institut (Paris, France) October 19, 2020.

She defended her Ph.D. dissertation on the 15th of December, 2023, presenting a project on the 'Characterization of altered pathways in Nephronophthisis, with a focus on Inflammation and the Hippo pathway.' This research work was conducted within the Laboratory of Hereditary Kidney Disease at the Institut Imagine. She obtained the title of PhD in Molecular and cellular biology issued from the University of Paris Cité.

What does Giulia do now?

Since June 2024, I have been actively involved in the creation of the biotech startup BioHive, working as a laboratory manager. Our mission is to develop advanced organoid models that closely replicate human skin, with applications in the fields of cosmetology and pharmacology. Although my experience with organoids is still in its early stages, I am enthusiastic about the future and the potential to innovate our models. I find the startup environment particularly motivating due to its dynamic nature, where building everything from the ground up offers continuous learning opportunities and it is a new personal challenge for me.

What does Giulia say about our program?

I am deeply grateful to this PhD training program and to the SCilS Network for providing me with such a transformative experience. Research conditions vary across European countries in terms of funding and resources, and this program has given me the invaluable opportunity to work in a top-tier institute with extensive facilities and renowned researchers. Being exposed to a wide array of technologies and methodologies has helped me gain a clearer understanding of my strengths, passions, and future aspirations. The SCilS community, made up of incredible researchers and wonderful individuals, has been a true source of inspiration. The chance to travel between laboratories has been an added value, enhancing collaboration and fostering rapid project advancements. Finally, sharing this journey with 13 fellow students has been a constant source of joy, support, and invaluable advice. Despite the inevitable ups and downs, I have no regrets—this experience has been deeply enriching, both professionally and personally, leaving me with a wealth of knowledge and lasting connections. Thank you, SCilS!

Abstract
Nephronophthisis (NPH) is an autosomal recessive renal ciliopathy characterized by chronic tubulointerstitial nephritis with massive interstitial fibrosis and cyst formation leading to end-stage renal disease during childhood and adolescence. To date, 22 NPH causative genes have been identified and almost all the proteins encoded by these genes (NPHP) localize at the primary cilium, a particular organelle where many components of different pathways (Hedgehog, Wnt, Notch, TGF-β, GPCR, mTor, ion channels) concentrate. The aim of this project is to characterize specific signaling pathways and cellular processes altered in patients with NPH using a combination of CRISPR-based genome editing in epithelial cells and urinary epithelial cells from patients and deploy multi-omics analyses. Tubular cells invalidated for NPHP1 (one of the most mutated gene in NPH) by CRISPR-Cas technology (mIMCD3) or recovered from urine of NPHP1 patients and controls (URECs) have been established for cellular phenotyping, ciliogenesis, ciliary composition and transcriptomic analyses. A particular focus would be given to the elucidation of the inflammatory status: comparisons between NPH and other kidney diseases models will be made in order to obtain features specific for this ciliopathy. Moreover, further validations of signaling pathways will be carried in kidney organoids from patients-derived iPSC and in Nphp1 KO mice and patients kidney biopsies for more in-deep analysis of renal fibrosis development, including functional readouts epithelial differentiation, ECM deposition, ciliogenesis or ciliary trafficking. The results obtained would implement current NPH knowledge allowing to better understand the mechanisms of its pathogenesis.

We want you to understand!

Layman abstract

Slowing down the disease

Nephronophthisis (NPH) is a genetic disease that causes rapid deterioration of the kidney leading to the need for a transplant during childhood. Most of the cases are caused by mutations in the DNA, but the mechanism that causes the symptoms is still unclear. In my study, I look at cell or urine samples from patients and animals. These are analysed to identify the factors that cause NPH development. The ultimate goal will be to find new treatments to slow the progression of NPH.

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