Malattie rare

Malattie non diagnosticate

Per malattie rare senza diagnosi si intendono quelle patologie per le quali, nonostante i numerosi sforzi della comunità medico-scientifica e i progressi tecnologici, non si giunge a una diagnosi certa.

Questo gruppo di malattie includono condizioni patologiche senza un nome, malattie con fenotipo (manifestazioni cliniche della malattia) ben caratterizzato e descritto, patologie con una base molecolare sconosciuta o dovute a fattori non genetici.

Il problema delle malattie rare senza diagnosi viene affrontato a livello globale attraverso la collaborazione e il lavoro in rete (networking ) fra clinici e ricercatori di tutto il mondo.

Dal 2014 è attivo l'Undiagnosed Diseases Network International (UDNI) co-fondato dall'Istituto Superiore di Sanità e dagli Stati Uniti d'America e al quale partecipano molti altri paesi del mondo. 

Indietro International course Training on strategies to foster solutions of undiagnosed rare disease cases


The International Course "Training on strategies to foster solutions of undiagnosed rare disease cases" is part of a series of training activities proposed by the EJP RD. EJP RD is a European Commission funded project (grant agreement No 825575, 2019 – 2023) with the goal “to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation”.

This International course is part of WP14 of the EJP RD, “Training on Data Management & Quality”; Task 14.3 “Training on strategies to foster solutions of undiagnosed rare disease cases”. WP and Task Leader: Dr. Claudio Carta, ISS.

Course Director: Dr. Domenica Taruscio, ISS.

The Course is made up of 3 days of residential training organized by ISS, Istituto Superiore di Sanità, in close collaboration with EJP RD task partners and with the endorsement of ICORD International Conference On Rare Diseases and Orphan Drugs.

Several initiatives have been undertaken at national and international level for undiagnosed rare diseases aimed at identifying clinical pathways and innovative methods to reach diagnosis. This course will illustrate methodologies and tools already used internationally and will provide participants with useful examples for the resolution of undiagnosed cases.

The course will provide participants, through the presentation of sample use cases that have long eluded diagnosis, with useful tools, instruments and knowledge on novel strategies to foster solutions of undiagnosed RD cases. Moreover, the course will facilitate networking among professionals involved in undiagnosed rare conditions.

The first two days will be dedicated to plenary presentations and Problem-Based Learning (PBL). PBL is a highly interactive and learner-centred approach in which participants, working in small groups assisted by a facilitator, find the solution to a problem that will be discussed at the end of the session with the experts. On the third day of the course, a hands-on experience with practical demonstrations of useful bio-informatics resources will be shown to the participants.
Participants are asked to bring their laptops for the PBL and the practical demonstration sessions.

The International course is open to the international research community, to clinicians and to medical specialists who have experience and concrete interest in the diagnosis and research of Rare Diseases.
To ensure active participation and exchange with teaching staff and participants, a maximum of 30 attendees will be admitted. A selection process will be applied based on the participants’ background in: genotypic and/or phenotypical identification of rare disorders; deep phenotyping; inferring variants; digital technologies in rare diseases. Priority will be given to participants involved in national and international Rare Disease Programs and Projects: Undiagnosed Diseases Network International (UDNI), Solving the Unsolved Rare Diseases (Solve-RD), and the European Reference Networks (ERNs).
This course foresees four fellowships for participants resident, living and working in an EU13 Country (Bulgaria, Croatia, Cyprus, Czech Republic, Estonia, Hungary, Latvia, Lithuania, Malta, Poland, Romania, Slovakia, Slovenia). For more information about eligibility and criteria for selection, contact Claudio Carta at: claudio.carta(at)iss.it
For each fellowship a maximum of 350 euros for travel (flight and/or train round trip) and 120 euros/night for hotel accommodation for a maximum of 3 nights is available.

Online registration form is available until 26 January 2020. An e-mail will be sent to the selected participants and to the attendees who have been selected for the travel fellowships by 31 January 2020. Respondents who are not selected/contacted by email, will be kept on a waiting list until 24 February 2020.

The course and the registration are free of charge. Coffee, refreshments and lunches will be offered during the course. Travel, accommodation and other costs incurred to attend the course are at the expense of the participants. The course organisers will not cover expenses incurred by the participants in any case.

Group presentations are foreseen to assess the new learning. A satisfaction questionnaire will also be submitted to the participants.

At the end of the course a certificate of attendance will be handed to the participants who attended 100% of the course. No credits of Continuing Education in Medicine will be issued.

Workshops will run in English.

Aula Rossi, Istituto Superiore di Sanità, Via Giano della Bella, 34 – Rome, Italy.

If you have questions please write to the course organiser Claudio Carta, PhD:


Centro nazionale per le malattie rare


Malattie non diagnosticate