Main aims

The Department of Medical Sciences and Città della Salute e della Scienza represent a national medical center of excellent for solid organ transplantation, directly involving the Nephrology and Dialysis Unit, the Cardiology and Gastroenterology Unit, the Regional Transplant Center (CRT) and the Transplant Genetics and Immunology  Unit.

This workpackage relies on the high number of solid organ transplantations per year (180 cases for kidney; 200 cases for liver; 40 cases for heart and lung) allowing the collection of serum and DNA at the baseline and during follow-up. The Regional Transplant Center (CRT) already has a sizeable biobank of samples obtained from more than 4600 kidney transplants, 3000 liver transplants and 1000 heart/lung transplants

The main aims of this workpackage are:

1. identification of early markers of organ rejection for a better management of recipient patients and to avoid invasive and late screenings (e.g., organ biopsy, anti-HLA antibodies). This task of the project focuses on kidney transplants and is based on the analysis of a panel of genes known to be modulated in case of kidney rejection
2. identification by WES of novel genetic biomarkers, specifically mutations or polymorphisms, involved in inducing an anti-HLA antibodies allowing for a better stratification of patients in transplants waiting list
3. identification by WES of genetic variants responsible for organ failure, providing a diagnosis for undiagnosed diseases and allowing for a better patient’s management, including a better donor-recipient matching
4. design of a panel of genes to be sequenced for rapid and reliable diagnosis of cardiac and kidney diseases leading to organ failure and requesting organ transplantation