25
Sep
2023International Summer School on Rare Disease Registries and FAIRification of data
REGISTRATION IS NOW OPEN HERE until 5 July 2023. This course is foreseen as a face-to-face training at Istituto Superiore di Sanità, Rome, viale Regina Elena 299. Registration is possible for: the first training module…
- 09:30 - 16:00 (29 septembre 2023)
- Rome, Italy
20
Sep
2023EJP RD Variant Prioritization and Enrichment for Rare Diseases Workshop
GENERAL INFORMATION Participants will learn the fundamentals of Whole Exome Sequencing (WES) including terminology, pre and post-alignment processing, variant calling using Genome Analysis Toolkit (GATK) pipeline and annotation/filtration/interpretation of the variants. Moreover, Polygenic Risk Score…
- 09:00 - 17:30 (22 septembre 2023)
- Istanbul, Turkey
21
Juin
2023Paediatric Expert Patients Training Workshop
Are you an adolescent aged from 12 to 18 years old with an interest in health, biomedical research, healthcare, and children rights?Are you a patient with a chronic rare disease willing to get the skills…
- 09:00 - 17:00 (23 juin 2023)
- Barcelona, Spain
12
Juin
2023ERN biological samples in Rare Diseases research: Added value and usefulness
General informationThe Rare disease (RD) field benefits from national and international multidisciplinary collaborations to face the challenges in research. Access to infrastructures, collaborative research and policy platforms, virtual platforms for data integration are some examples…
- 14:00 - 12:00 (14 juin 2023)
- Madrid, Spain