The first Italian initiative devoted to the diagnosis of patients affected by rare disorders but lacking a genetic diagnosis

TUDP began in 2016 as a Pilot Program. In 2020, an application for a TUDP 2.0 program was submitted to Fondazione Telethon, who granted the project extension for a further 3 years. The Pilot Program has achieved a number of significant milestones.

The first milestone was the creation of a strong national clinical network, which comprises many of the most important Medical Genetics hubs in Italy.

The clinical network is still expanding to include additional important institutions. Extension of the TUDP network will allow new institutions to contribute further expertise and will further improve patient access to the program. During the pilot phase, the TUDP diagnosed 260 cases, with a success rate of 49%.

The clinical Network of the TUDP is composed by: Fondazione MBBM,Monza; Sant'Anna Hospital, Como; IRCCS Carlo Besta Neurological Institute, Milan; IRCCS Cà Granda Major Hospital Milan; SS. Paolo e Carlo Hospital, Milan; Meyer Children Hospital, Florence; Giannina Gaslini Hospital, Genoa; Umberto I Hospital, Roma; Agostino Gemelli University Hospital, Rome; Santobono-Pausilipon Hospital, Naples; Vanvitelli University Hospital, Naples; Federico II University Hospital, Naples; Bari University Hospital, Bari; IRCCS Oasi Maria Santissima, Troina; Arcispedale Santa Maria Nuova; Verona University Hospital, Verona.

TUDP is supported by Telethon Institute of Genetics and Medicine and in particular by the Bioinformatics Core (Diego di Bernardo, Diego Carrella, Rossella De Cegli, Sergio Sarnataro and Eugenio Del Prete).


Coordinator: Vincenzo Nigro
Project Manager: Carmine Spampanato

Research Associate: Manuela Morleo
Sequencing Activities Supervisor: Annalaura Torella

Bioinformatician: Alessandra Varavallo