Research Project

Project Title:	STUDY OF GENETIC AND STRUCTURAL DETERMINANTS INVOLVED IN THE ETIOLOGY OF RENAL HYPODISPLASIA
Project Type:	Translational research
Disease group(s):	Congenital malformations & ciliopathies
Project Summary:	Non-syndromic renal hypo/dysplasia (RHD: OMIM #610805)accounts for almost 20-25% of all causes of end stage renal failure in children. Although mutations of at least 15 genes involved in the early stages of kidney development and some copy number variations (CNV) have been associated with RHD, the majority of patients remains without a genetic diagnosis, that would be helpful for prognostic evaluation. The overall objective of the project is the identification of genetic determinants for bilateral non-syndromic renal hypo/dysplasia and any correlated phenotype (upper urinary tract abnormalities). Starting from exome sequencing of 20 pediatric patients with isolated and sporadic RHD, as part of the strategic project of Padua University "Bioinfogen", we will evaluate the genetic variants highlighted with the bioinformatics analysis on new candidate gene, confirmations with Sanger sequencing will be performed and mutational screenings will also be performed on a larger population of patients with RHD enrolled in these last 3 years. It will also be performed CNVs analysis.
Lead principal investigator(s):	, Giorgio Perilongo, Padova
Co-investigator(s):	Susanna Negrisolo, Padua Davide Meneghesso, Padua
Project Period:	07/2018 - 07/2021
Sponsors:	Non-profit foundation