The “Training on strategies to foster solutions of undiagnosed rare disease cases”, will take place 13-15 March 2024 in Rome, Italy

Rome, Italy – The “Training on strategies to foster solutions of undiagnosed rare disease cases”, will take place from 13-15 March 2024, at Istituto Superiore di Sanità (ISS), Rome, Italy. The course will be only in person.

4 travel and accommodation fellowships are available for participants living and working in a EU-13 Country or in Turkey. For more information on eligibility criteria please write to the course director Dr. Claudio Carta ([email protected], or [email protected]).

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) 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 Work Package 14 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. Claudio Carta, ISS.

The Course is made up of 3 days training organized by ISS, Istituto Superiore di Sanità, in close collaboration with EJP RD task partners: EKUT, LBG (LBI-RUD)–Ludwig Boltzmann Gesellschaft GMBH, Vienna, Austria; ACU/ACURAREAcibadem Universitesi, Istanbul, Turkey;ISCIII– Instituto de Salud Carlos III, Madrid, Spain; INSERM (AMU) Institut National de la Santé et de la Recherche Medicale, Marseilles, France; FTELE Fondazione Telethon, Milan, Italy; UMCG Academisch Ziekenhuis Groningen, Netherlands; IMAGINE Imagine Institut des Maladies Genetiques Necker Enfants Malades, Fondation, Paris, France; CNAG-CRG Fundacio Centre de Regulacio Genomica, Barcelona, Spain; IPCZD (CMHI)– Instytut Pomnik Centrum Zdrowia Dziecka, Warsaw, Poland.

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 course is composed of presentations held by the experts and interactive question & answer sessions between speakers and participants.
Tool demonstrations and hands-on exercises will be part of the training course as well.

For more information please click here.


Meeting details

Date:  March 13-15 2024

Venue:  Istituto Superiore di Sanità – Viale Regina Elena, 299 – 00161 Rome Italy