The National Center for Rare diseases (NCRD) of Istituto Superiore di Sanità coordinates the Italian Network for Rare Diseases and carries out public health and scientific activities at National and International level, providing technical expertise and information on rare diseases and orphan drugs, for the prevention, treatment and surveillance of these disorders (www.iss.it/cnmr). The Italian Network for Rare Diseases consists of centres for the diagnosis and treatment of RD patients and regional and interregional co-ordination centres.
In 2016 the NCRD with the NIH launched a national program on undiagnosed rare diseases “Undiagnosed Rare Diseases: a joint Italy - USA project” funded by the “Ministero degli Affari Esteri e della Cooperazione Internazionale-The Ministry of Foreign Affairs and International Cooperation” (see “The project” section). The research design highlights the need of multidisciplinary efforts in order to apply the new genomics biotechnologies onto the diagnostic, therapeutic and care processes for patients affected by undiagnosed rare diseases. Omics data will be collected also through the italian network for rare diseases and patients will be selected for the unique characteristics of their disorder and for the potential to reveal new aspects of cell biology or biochemistry. Candidates should have been extensively examined already, so that obvious diagnoses have been excluded.
The Clinical Centres participating in the project are actively involved in: collecting data, standardized phenotyping using the Human Phenotype Ontology (HPO) and analyzing the genetic variants (methodology Next Generation Sequencing-NGS).
The national program on undiagnosed rare diseases is part of the international network “Undiagnosed Diseases Network InternationaI”-UDNI- which aims to diagnose patients who have long sought a diagnosis, and is made up of, besides USA and Italy, other EU Countries, Canada, Japan Australia, Korea, India. The Dr. Domenica Taruscio, Director of the NCRD, is UDNI Board member. The NCRD is contributing to lead the activities of the UDNI and is actively involved in the International Conferences sponsored by the NIH (Rome, 2015; Budapest,2015; Vienna, 2016; Tokyo 2016).
Since 2003 a bilateral Italy and USA agreement between the Istituto Superiore di Sanità (ISS) and the National Institutes of Health (NIH) has been signed, with the purpose of increasing research and public health actions in rare diseases. In 2013, the Common Fund of the US NIH supported a nationwide Undiagnosed Diseases Network, which is made up of a Coordinating Center, Clinical Sites, additional research sites and Core Facilities. The NIH Clinical Center continues to thoroughly evaluate 120-150 patients per year and the additional clinicl sites will accept about 50 patients per year with rare undiagnosed diseases. The NIH UDP and UDN will make several major contributions to the joint Italy-US project, sharing best practices, genomic and phenotypic data, and expertise based upon the UDP’s comprehensive evaluation of over 850 patients with extremely rare disorders, many of which are new diseases.