Study on Hemolytic Uremic Syndrome – Atypical (aHUS) funded under the tenders of the Ministry of Health for the PNRR (National Recovery and Resilience Plan) with around 300,000 euros
Recognize the signs of a rare nephrological disease also thanks to an application. It is one of the pieces that makes up the project in which the Complex Operative Unit of Nephrology and Dialysis of the “Gaetano Martino” Polyclinic of Messina is involved, directed by prof. Dominic Santoro.
The study – entitled “The functional implications of rare genetic mutations in the atypical haemolytic uremic syndrome (AESU) open the door to personalized therapy” – obtained, in the context of the tenders of the Ministry of Health for the Pnrr (National Recovery Plan Resilienza), a loan of around 300 thousand euros. It is coordinated by the center of the Mario Negri Institute in Bergamo, directed by prof. Joseph Remuzzi.
Early detection
The syndrome is difficult to diagnose but there is a cure. Thanks to the application, it will be possible to insert the symptoms found in hospitalized patients, thus composing a sort of joint which, with the different information, allows to circumscribe those who could be affected. The early identification of patients makes it possible to continue the treatment process by carrying out the genetic analyzes which are indispensable for carrying out precision medicine, i.e. treatments set up on the basis of the individual characteristics of the person.
The application
“The project – explains prof. Santoro – was ranked thirteenth out of seventy presented, resulting in the first in nephrology. In recent years, our group has cultivated a scientific interest in this pathology, developing a patent and the application (downloadable on the App store and Google store platforms) for the differential diagnosis of thrombotic microangiopathies including aHUS and thrombotic thrombocytopenic purpura. This patent has attracted the attention of the group of prof. Remuzzi and Professor Marina Noris, a curiosity that then turned into a concrete synergy that led to the signing of a joint project between the Mario Negri Hospital and the “Gaetano Martino” Polyclinic within the Pnrr 2022 “. Together with prof. Santoro participate in the study for the Polyclinic Dr. Valeria Cernaro, Dr. Vincenzo Calabrese and Dr. Elisa Longhitano.
In the photos from the left, doctors Vincenzo Calabrese, Valeria Cernaro, Domenico Santoro and Elisa Longhitano.