Roberta Facioli
Works on Nephrology area:
– Kidney organoids are generated from iPSCs cells in patients with autosomal dominant polycystic kidney disease (ADPKD) and submit them to treatment with Forskolin for cysts induction.
– Perform the kidney organoids transcriptomic analysis aiming to identify potential therapeutic targets.
Graduated in Biological Sciences focused on a medical and biomedical modality (University of Santo Amaro – UNISA 2006), undergraduate research at the Pharmacology Department of Butantan Institute. Medicine PhD by the Postgraduate Program in Nephrology at UNIFESP in partnership with NUCEL / USP (2021). The main areas of expertise are: Immunology, Nephrology and Clinical Hematology. It has a Clinical Analysis Laboratory, Clinical and Scientific Research and Scientific Advisory Services in Laboratories, Hospitals, CROs and the Pharmaceutical Industry performing mentoring, training, education, dossiers, lectures, seminars and Workshops.
The kidney organoids generation constitutes a powerful tool to investigate genetic kidney diseases such as Autosomal Dominant Polycystic Kidney Disease (ADPKD). This disease is caused by mutations in the PKD1 and PKD2 genes, which encode polycystins 1 and 2, respectively, in the formation of renal cysts. The disease’s pathophysiogenesis is quite complex and not fully understood. Therefore, we generated an in vitro model as an instrument to study the mechanisms involved in cystogenesis in very early periods of renal development. These renal organoids present as typical renal tubular structures, being generated through the differentiation of iPSC cells after reprogramming of erythroid progenitor cells (EP) does not present blood from patients with ADPKD and also from healthy people, used as control. The expectation is these renal organoids constitute an efficient, reproducible and suitable study model for elaborate studies. In addition, a source used to obtain renal organoids (patients’ blood) should favor future autologous cell therapies. Organoids are going to be incorporated into the forskolin treatment to induce cyst formation and, as in cell culture, they are going to be collected for transcriptomic analysis, by RNASeq, to identify how genetic changes are presented in renal cells both during embryonic development and also during the process of formation of cysts, being able to determine potential targets for studies and therapeutics. In addition to the global transcriptomic analysis, the role of two microRNAs (miR-17 and miR-21) in the development of renal organoids containing – or not – cysts will also be investigated.
Picture 1. Magnetic Resonance Imaging of two patients with ADPKD, allowing to visualize the renal cysts.
References:
Cruz NM, Song X, Czerniecki SM, Gulieva RE, Churchill AJ, Kim YK, et al. Organoid cystogenesis reveals a critical role of microenvironment in human polycystic kidney disease. Nat Mater. 2017 11;16(11):1112-9. PubMed PMID: 28967916. PMCID: PMC5936694. Epub 2017/10/02