Organizing & maximizing rare disease biological sample data in biobanks


This training workshop is a part of a series of capacity building programs put forth by the European Joint Programme on Rare Diseases (EJP RD). EJPRD is a European Commission co-funded project (GA N° 825575, 2019 – 2023) with the goal “to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation”.

The organisation of this workshop series on biobanks and biological samples is coordinated by Fondazione Telethon, Italy. Project partners in this training series are BBMRI-ERIC, Charité – Universitatsmedizin Berlin, Institute of Health Carlos III Spain, Hacettepe University Turkey, Medical University Gdansk Poland, University Medical Centre Groningen the Netherlands and Vilnius University Hospital Lithuania.

Biological samples from rare disease (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-Connect, EuroBioBank) 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 workshops, we aim to promote FAIR of resources and
research reproducibility. The training workshops  will offer biobanks to learn how to harmonise and share their rare disease biological sample data and encourage direct interactions between RD clinicians/researchers and biobanks, where researchers can exchange on how to leverage biobanks in their RD research.


Several training workshops on rare disease sample management will be organised during the EJP RD run time. Workshop themes may vary from year to year, based on feedback from participants and EJP RD project outputs.

In 2019, the workshop theme is “Organizing & maximizing rare disease biological sample data in biobanks “.

Two workshops are available in 2019 and will have similar contents. The two workshops may vary only slightly to tailor the local organisers logistical or needs. Workshop themes may vary from year to year, based on feedback from participants and EJPRD project outputs.

Workshop 1           1-2 April 2019, Milan, Italy

Workshop 2           29-30 October 2019, Vilnius, Lithuania


The training workshop will consist of plenary lectures and interactive small-group exercises, based to the Problem-Based Learning (PBL) method. PBL is a highly interactive and learner-centred approach where the learning occurs by working in a small group assisted by a facilitator to develop a solution of a problem. Practical demonstration of biobank or sample catalogue related tools are also included. Participants are asked to bring their laptops in order to participate in the PBL and the practical demonstrations.


The training workshop is open to healthcare professionals, researchers, clinicians, biobank managers, database managers and rare disease patient advocates. In particular, we welcome participants from all types of biobanks (academic, hospital, private) with focuses on 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, role with reference to biobanking activities, and involvement in ERNs.


Registration closed.

Please note completing the registration form does not guarantee a place for the workshop, confirmed applications selected for participation will be informed by 20 September 2019.


Two travel fellowships are available to cover one round trip flights and up to two nights of hotel accommodation, for a total of up to 470 euros. We especially encourage participants from EU-13 countries, if you wish to apply for a travel fellowship please submit the completed registration with the fellowship section by 1 September 2019.

Successful applications for fellowships will be informed by 20 September 2019.


The workshop and registration is free of charge. Coffee, refreshments and lunches will be offered during the workshop. Participants must arrange their own travel, accommodation and other expenses to attend the workshop. The workshop organisers will not cover expenses incurred by the participants.


At the end of the workshop a certificate of attendance will be handed to the participants who attended the entire workshop. No credits of Continuing Education in Medicine will be issued.


Workshops will run in English.


If you have questions please write to the workshop organiser Dr Mary Wang or local organisers Danute Vanseviciute, Dr Birute Tumiene.


EJP RD Biobank Workshop 2019 Vilnius