Training on strategies to foster solutions of undiagnosed rare disease cases

  • 3 April 2023 - 09:30
  • Rome, Italy
Registration is now open here for the reserve list only until 2 March 2023.
An e-mail will be sent by 3 March 2023 to the selected participants.

The “Training on strategies to foster solutions of undiagnosed rare disease cases”, will take place from 3-5 April 2023, at Istituto Superiore di Sanità, ISS, Rome, Italy.

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 (, in Cc

Participants selected to receive a travel and accommodation fellowship will be contacted by email by 3 March 2023. After this date the selection process will close. Attendants not contacted by email by this date should consider themselves as non-selected.

Please note: inside ISS the wearing of FFP2 masks is mandatory. Social distancing will be required during the training course.
Participants are asked to bring their laptop for the hand-on sessions.

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. 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.

The 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 foresees 4 fellowships for travel and accommodation. For each fellowship a maximum of 420,00 euro for the round trip (including public transport in Rome), and of 150,00 euro/night for a maximum of 3 nights are available.

For more information on selection and fellowship eligibility criteria please contact the course director Dr. Claudio Carta (, in Cc

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 for Continuing Education in Medicine will be issued.

Aula Bovet
Istituto Superiore di Sanità, viale Regina Elena 299, Rome, Italy.

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


  • Start Date:3 April 2023
  • Start Time:09:30
  • End Date:5 April 2023
  • End Time:16:30
  • Location:Rome, Italy