Please note this course will now be held online.
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.
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.