Training on Strategies to foster solutions of undiagnosed rare disease cases

  • 12 April 2021 - 09:30
  • Online

12 – 14 April 2021. This workshop is online with a web-conferencing format.


An e-mail will be sent by 15 March 2021 to the selected participants.
Respondents should consider themselves on a reserve list until 31 March 2021. After this date the selection process will close and we hope that the non selected respondents will apply for the next edition of the training course.


Due to the force majeure situation, the international travel policies associated with COVID-19 and extraordinary measures to limit the spread of the virus, the Italian health authorities (including the Istituto Superiore di Sanità, ISS), recommend adopting a precaution approach regarding trips and events. In order to allow the correct progress of the planned tasks of EJP RD, ISS ensures that the international course “Training on strategies to foster solutions of undiagnosed rare disease cases”, 12-14 April 2021, ISS, Rome will be held ONLINE.

The selected participants will be informed of the means and tools for participating to the online version of the training course.


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 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. Domenica Taruscio, 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/ACURARE – Acibadem 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.


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 on 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 the European Reference Networks (ERNs) and in national and international Rare Disease Programs and Projects: Undiagnosed Diseases Network International (UDNI), Solving the Unsolved Rare Diseases (Solve-RD).


The course and the registration are free of charge. The course organizers will not cover expenses incurred by the participants in any case.


A learning assessment multiple choice questionnaire and a satisfaction survey will be submitted to the participants at the end of the training course.


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.






If you have questions please write to the course organizer Dr. Claudio Carta, (in Cc


Download the programme here: EJP_RD_Prog_CourseUndiagnosedRDs_2021_Final


  • Start Date:12 April 2021
  • Start Time:09:30
  • End Date:14 April 2021
  • End Time:17:30
  • Location:Online