Ricerca Progetti nazionali, regionali, internazionaliNIKE

Set-up of a platform for personalized diagnosis of rare kidney diseases

Converging evidence suggests a high prevalence of genetic etiology in rare kidney diseases. Recent advances in next-generation sequencing (NGS) technologies have prompted a significant

improvement in the diagnosis of rare kidney diseases. However, the complexity of genetic diagnosis is a major issue in management and treatment. Indeed, NGS generates high numbers of information that need to be properly analysed by the joint efforts of geneticists, nephrologists, bioinformatics and basic researchers in order to integrate clinical and genetic information and develop adequate disease modeling in a personalized manner. Such an innovative, integrated diagnostic paradigm is currently available in few centers all over the world and cannot be easily translated in daily clinical practice. Indeed, lack of this specific expertise by nephrology units limits the access of the majority of patients affected by rare kidney diseases to a correct genetic diagnosis, with increased morbidity, risk of inappropriate treatments and chronic kidney disease (CKD) progression, resulting ultimately in high costs and a severe impact in patient’s life. For these reasons, this project aims to: 1. Propose an integrated diagnostic algorithm to extend novel strategies of personalized diagnosis and care of rare kidney disorders to all patients <40 years of age with CKD of the Tuscany region in a constant crosstalk between peripheral nephrology centers and a core multidisciplinary team and validation of diagnostic and therapeutic performance at european level; 2. Promote implementation of personalized diagnosis of CKD with constant update of the panel of genes analysed in real-time with new causative genes discovery; 3. Support personalized diagnosis with implementation of individual disease modelling from 2D to 3D organ-on a chip 4. Mapping pathways for drug targeting in orphan kidney diseases by single cell RNA sequencing 5. Set-up preclinical gene editing approaches for personalized treatment of selected kidney disorders. In summary, the results of this project have the potential to set-up a significant innovation in the process of diagnosis and clinical management of patients affected by rare kidney diseases.

 

Responsabile: Laura Papi

Data inizio: 17.07.20

Data conclusione: 16.07.24

CUP n. G84I18000150002

Progetto finanziato dalla Regione Toscana nell'ambito del Bando regionale Ricerca Salute 2018

 

COSTO COMPLESSIVO	CONTRIBUTO REGIONE	BENEFICIARI	PARTNER	COSTO COMPLESSIVO PER PARTNER	CONTRIBUTO REGIONE PER PARTNER
1.000.000,00	800.000,00	AOU MEYER	capofila	240.000,00	192.000,00
		Università degli Studi di Siena	partner	210.000,00	168.000,00
		Università degli Studi di Firenze	partner	240.000,00	192.000,00
		AOU CAREGGI	partner	110.000,00	88.000,00
		AOU PISANA	partner	100.000,00	80.000,00
		AUSL TOSCANA CENTRO	partner	100.000,00	80.000,00