Toward Innovative Research Biobanks for Rare Diseases: Overcoming the Challenges

29-30 October 2020. Instituto de Salud Carlos III (ISCIII), Madrid, Spain , ONLINE


Due to the worldwide situation regarding COVID-19, the international travel policies and extraordinary measures to limit the spread of SARS-Cov-2 virus, it seems reasonable to adopt a precaution approach by avoiding trips and face-to-face events until a safer scenario will arrive.
In order to ensure the correct progress of the planned tasks of the EJP RDISCIII (Instituto de Salud Carlos III, of Spain) and the EJP RD leaders ensure that the Training on Biobanks for Rare Diseases, that was planned to be held in ISCIII, Madrid (Spain) on October 29-30, 2020, will be held ONLINE.

The “Training on Biobanks for Rare Diseases – Toward Innovative Research Biobanks for Rare Diseases: Overcoming the Challenges” 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”.

In particular, this Training on Biobanks for Rare Diseases is a part of the Work Package 14 of the EJP RD, focused on “Data Management & Quality Training”, and which aims to organize residential training courses in different countries.

The Training is organized by Instituto de Salud Carlos III (ISCIII) of Spain, in close collaboration with, mainly, EJP-RD task leader Fondazione Telethon (FTELE) of Italy. Other Project partners in this training series are BBMRI-ERIC, Charité – Universitatsmedizin Berlin, Hacettepe University Turkey, Medical University Gdansk Poland, University Medical Centre Groningen the Netherlands and Vilnius University Hospital Lithuania.

The Institute for Rare Diseases Research (IIER) of ISCIII runs the Spanish National Biobank on Rare Diseases (BioNER) and has a long experience in the field. In fact, its Director and staff currently hold the Scientific Coordination and Secretariat of the EuroBioBank, network of RD-biobanks. Also, IIER has a vast experience by organizing numerous courses focused on different aspects of rare diseases.

Biological samples from RD patients are precious resources for research. Due to their intrinsic rarity, these samples are often dispersed in multiple biobanks and are difficult to locate. The accessibility of these biological samples underpins the development of new diagnostic techniques, biomarker development, identification of potential therapeutic targets, and testing therapeutic response.

Biobanks are key research infrastructures that offer professional services to the research community for sample sourcing and management. They play an important role in maintaining the quality of the biological samples from time-of-collection to distribution, as well as conserving the privacy and wishes of the patients. Biobanks have begun to share RD sample datasets to centralised sample catalogues (eg. RD-ConnectEuroBioBank) to facilitate sample access and support the change towards best practice with their special position interfacing patients, clinicians and researchers.
However, RD samples and associated data pose particular management challenges for their high variety of data types (e.g. disease names, genetic variants, phenotypes, clinical data), as well as balancing the need to share while preserving privacy and rights of RD patients.

The goal of this training series is to develop the capacity on data management of biobanks, allowing them to optimise operations to support the need of RD research community. Through the trainings, we aim to promote resources to be FAIR (Findable, Accessible, Interoperable and Reusable) and research reproducibility.
The training workshops will offer biobanks to learn how to harmonise and share their biological sample data encouraging direct interactions between RD clinicians/researchers and biobanks, and exchange on how to leverage biobanks in their RD research.

The general objective of this training is to provide the trainees with knowledge, based on the experience of the expert speakers, on some innovative approaches which are currently relevant for the research on RD based on biobanks, tackling different challenges, and their overcoming.


Biobanks are key resources in order to increase research on rare diseases, timely and accurate diagnosis, tailor treatments, facilitate clinical trials, and support healthcare planning.
This training is composed of two training modules:

  • In the first module (29 October 2020), the role of the rare diseases biobanks in research will be put in place, considering the biobanking activity in the context of the European Reference Networks (ERNs), the unmet needs, the key role in unsolvable cases with rare diseases and, through specific biobanks’ participation, reviewing some of their research outcomes. This Training will provide excellent experiences and practical issues on the activity, for instance, regarding biobanks for brain tissues, patient-derived organoids applied to treatment research, and primary human cell lines for drug and biomarker discovery (with the example of myotonic dystrophy).
  • In the second module (30 October 2020), innovative considerations will be presented regarding the Human pluripotent stem cell registry, clinical trials and biobanking, or the application of lymphoblastoid cell lines for studying CNS disorders, and again organoids seen as a way to have a proxy of the patient in the lab, and in general biobanking on advanced clinical materials for promoting clinical research on rare diseases. In a second part of this module, the issues related to data collection in biobanks, together with the patient’s perspective on biobanking for rare diseases research, and ethical and legal issues applied to innovative biological sample use in research will be prompted for further discussion after all the sessions of the Training, giving space to all the attendees for such dialogue with the speakers and moderators.


In an online format, there will be plenary presentations, dedicated interactive questions & answers, moderated sessions between speakers and participants, in order to giving space for discussion to all.


The training course is open to the international research community, clinicians, medical specialists, RD biobank’s managers, healthcare professionals and RD patients’ representatives.

To ensure active participation and exchange with teaching staff and participants, a maximum of 30 attendees will be admitted to each training module.
selection process will be applied by an ad-hoc committee (composed by the EJP RD representatives who organized the Training), using as selection criteria the participants’ background, their role with reference to rare diseases biobank activities, especially those linked to research, participation in ERNs or their involvement in the national plans for rare diseases in their own country.


Registration is closed


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


At the end of the Training an online questionnaire can be addressed to participants for learning and impact assessment.


At the end of the course a certificate of attendance will be handed to the participants who attended 100% of the single training module or the entire Training program.
No credits of Continuing Education in Medicine will be issued.




Online. Details for the connection will be provided in advance to confirmed participants.


If you have questions, please contact the course organisers through this email address:

Please, indicate in the Subject: Training on Biobanking for RD


EJP RD-Training for Biobanks