Training on strategies to foster solutions of undiagnosed rare disease cases | 27-29 April 2020 | Online

INTRODUCTION AND OBJECTIVES

The International Course Training on strategies to foster solutions of undiagnosed rare disease cases, 27 – 29 April 2020. Istituto Superiore di Sanità, Rome, Italy, 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”.

Programme, logistics and deadlines – https://www.ejprarediseases.org/index.php/training-on-strategies-to-foster-solutions-of-undiagnosed-rare-disease-cases/

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: 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, and with the endorsement of ICORD International Conference On Rare Diseases and Orphan Drugs.

LEARNING METHOD

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.

PARTICIPANTS 

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.

REGISTRATION

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.