Genetic biobanks for Rare Disease Research

  • 14 juin 2022
  • Online

Rare disease (RD) is one area where national and international multidisciplinary collaborations are valuable to overcome some of the present challenges in research. Access to infrastructures, collaborative research and policy platforms, virtual platforms for data integration are some examples of means to overcome bottlenecks for diagnosis and treatment of RD patients. One of such infrastructures are biobanks which are important drivers for creating scientific knowledge by collecting, storing and distributing human biological samples and associated data with quality assurance management systems and following ethical and legal guidelines.

Biobanks are a valuable resource for rare disease research and should be setup as a long-term facility, which requires careful planning for sustainability. Genetics is especially important in rare disease research but come with challenges in the field of Ethics and the European privacy legislation (General Data Protection Regulation). Biobanks also face challenges in the area of data management with the trend towards open access and FAIR data and need to learn how to leverage the tools that infrastructures such as the EJP-RD and BBMRI-ERIC offer to them.

The training is aimed at biomedical researchers, medical professionals, and biobank managers who want to learn about genetic biobanks in rare disease research. Next to ELSI and sustainability this course will also cover the tools that the EJP-RD Virtual Platform and BBMRI-ERIC can provide to biobanks to develop a successful biobank as well as practical guidance on FAIR data management from the EJP-RD FAIR data stewards. The training will address ethics from multiple points of view, including patient representatives.

This training is composed of two days:
– The first day will focus on Data Management and Tools. In the morning, we will discuss the EJP-RD Virtual Platform as a discovery and research platform for rare disease research and the BBMRI-ERIC tools for biobanks and researchers as a discovery platform to make biobanks and their samples findable and accessible. We will focus on those parts that are of particular interest for rare disease biobanks, such as the Sample Catalogue and the Negotiator. In the afternoon we will discuss the FAIR data principles and data management. We will focus on the use of ontologies such as Orphanet, OMIM and HPO for biobanked samples and the experiences of the EJP-RD FAIR Data Stewards with some hands-on experience exercises.
– The second day we will cover the ELSI aspects biobanking in the morning, covering the European privacy regulations (GDPR) and a special focus on ELSI considerations in Genetics. We will view the topic from multiple perspectives, including the perspective of a patient representative. In the afternoon we will focus on the sustainability of biobanks including a discussion on public-private collaborations.

The training workshop is organized as a series of lectures presented by experts in the specific topics. Interaction between participants and lecturers will be facilitated by moderated question & answer sessions.

The workshop is open to the international research community, clinicians, medical specialists, RD biobank managers, healthcare professionals and RD patient representatives. 

Online registration form
Registration deadline is 29 May 2022
IMPORTANT: To ensure active participation and exchange with teaching staff and participants, a limited number of participants will be admitted. A selection process will be applied by an ad-hoc committee (EJP RD representatives who organized the Training), using as selection criteria, the applicants’ backgrounds and their activities with reference to rare diseases research and/or biobanks.

A confirmation e-mail will be sent, by 2 June 2022 to the selected participants to the course.  Applicants who are not contacted by email should consider themselves not selected but will be kept on a waiting list until 9 June 2022.  

The training and registration are free of charge.  
The training organisers will not cover expenses incurred by the participants in any way. 


  • Start Date:14 juin 2022
  • End Date:15 juin 2022
  • Location:Online