Training on strategies to foster solutions of undiagnosed rare disease cases

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 (claudio.carta@iss.it, in Cc laura.cellai@iss.it).

Participants selected to receive a travel and accommodation fellowship will be contacted by email by 22 January 2024.

The attendants non contacted by email by 22 January should consider themselves on a reserve list until 11 February 2024. Attendants not contacted by email by this date (11 February, 2024) should consider themselves as non-selected.

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) 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/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 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 (claudio.carta@iss.it, in Cc laura.cellai@iss.it).

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.

English

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

If you have questions please write to the course director Dr. Claudio Carta,
claudio.carta@iss.it (in Cc laura.cellai@iss.it)

The programme is available here.

Confirmed speakers:

Yasemin Alanay, ACURARE-Rare and Undiagnosed Diseases Center, Acibadem University, Istanbul, Türkiye

Claudio Carta, National Centre for Rare Diseases,Istituto Superiore di Sanità, Rome, Italy

Helene Cederroth, Wilhelm Foundation, Stockholm, Sweden

Ozlem Doğan, ACURARE-Rare and Undiagnosed Diseases Center, Acibadem University, Istanbul, Türkiye

Holm Graessner, University of Tübingen, Tübingen, Germany.

Wanda Lattanzi, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

Beatriz Martínez-Delgado, Molecular Genetics Unit and SpainUDP Program, of Institute for Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain

Leslie Matalonga, CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology

Agnieszka Madej-Pilarczyk, Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland

Marco Salvatore, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy

Marco Silano, Director National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy

Domenica Taruscio, Former Director National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy

Cleo van Diemen, Department of Genetics, University of Groningen, Groningen, The Netherlands