Here you can find the main events organized by the EJP RD members, partners, and friends.

Toward Innovative Research Biobanks for Rare Diseases: Overcoming the Challenges. 29-30 October 2020. ONLINE

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 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.
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.

The training course is open to the international research community, clinicians, medical specialists, RD biobank’s managers, healthcare professionals and rare disease 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 OPEN. Deadline is 28 September 2020.

The course and the registration are free of charge.

More info here.

Quality assurance, variant interpretation and data management in the NGS diagnostic era. 12-14 Oct 2020. ONLINE

The aim is to teach participants about the evaluation of the pathogenic nature and clinical significance of genetic variants, on the criteria that have to be set to the NGS analysis pipelines and on the use of international databases.
The course will build on expertise gained by EuroGentest and help in the translation of research tools to diagnostic applications (in line with the IRDiRC vision and goals). The impact is on the quality and reliability of NGS results, obtained through rare disease research.

The training course will be ONLINE and it will be accessible to laboratory scientists (EBMG registered), junior laboratory scientists, clinical geneticists, other medical specialists in training, policy makers and assessors for laboratory accreditation, and patient representatives, with a basic knowledge in biology or medicine. To ensure active participation and exchange with teaching staff and fellow participants, a maximum of 40 participants will be admitted to the training course.

Registration  is CLOSED.

The course and the registration are free of charge.

More info here.

International Summer School on Rare Disease Registries and FAIRification of Data. 28 Sept - 2 Oct 2020. ONLINE

The training course is open to the international research community, clinicians, medical specialists, registry curators, database managers, healthcare professionals and rare disease 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.

Registration is CLOSED

The course is organized by the Istituto Superiore di Sanità in close collaboration with EJP RD partners  [LUMC & UoG (Endo-ERN), IOR (Bond-ERN), UUH (Metab-ERN), EURORDIS, ISCIII, LUMC, INSERM (RaDiCo), UMCG, DTL-Projects (EIXIR-NL), CNR (ELIXIR -IT), AMC].
More info here.

European Conference on Rare Diseases & Orphan Products (ECRD). 14 -15 May 2020. Online.

The EJP RD is a full partner of the ECRD event!

The upcoming European Conference on Rare Diseases & Orphan Products (ECRD) will now take place online. Over 100 speakers will lead online, interactive sessions 14-15 May – official statement can be read here -. More people than ever before will now be able to participate in ECRD from the safety and comfort of their own home, connecting via an interactive online platform wherever they are in the world.

ECRD is recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape future rare disease policies.

Leading, inspiring and engaging all stakeholders to take action, ECRD is where innovative solutions in the rare disease field are born. The Conference is an unrivalled opportunity to network and exchange invaluable knowledge with all stakeholders in the rare disease community  – patient representatives, policy makers, researchers, clinicians, industry representatives, payers and regulators. People living with a rare disease have the right to reach their highest potential of well-being; join us in ECRD 2020 Stockholm to take part in discussions to inform and build the future ecosystem for rare disease policies and services.

Program at glance is available for consultation. The conference’s full programme will continue to be updated as the content of each theme is being finalised and adapted to an online audience. We will keep you informed as this evolves.

Also, it would be very important register for the free ECRD 2020 pre-conference WEBINAR that will take place on Thursday 23rd April from 13.00 – 14.00 CEST. This webinar is an opportunity for you to hear the latest outcomes of the Rare2030 Foresight Study and understand how the study lays a foundation for policy discussions throughout each theme of the conference.

For more info, click here.

14 – 15 May 2020. Online.

RE(ACT) Congress 2020 - IRDiRC Conference, 13-15 january ONLINE

Due to the COVID-19 outbreak, the RE(ACT) Congress and IRDiRC Conference will be held online one the 13th – 15th of January. 

This joint online event will continue the IRDiRC Conference series (4th edition) and the RE(ACT) Congress series (6th edition). It aims to bring together scientific leaders and experts and young scientists from a variety of breakthrough scientific fields to present cutting-edge research, exchange ideas, and discuss policies related to rare diseases research. Patients and patient organizations, who are committed to research, will also be in attendance to share their experiences and perspectives.

EURO-NMD. Annual Meeting 2020. 18 - 20 November 2020. Budapest, Hungary.

Save the date!

Further information about the programme, venue, registration and speakers will be available in due course.

For more info click here.

ERN-RARE-LIVER. ERN RARE-LIVER Members’ Meeting. 17 - 18 February 2021. Hamburg, Germany

ERN Rare Liver Annual Meeting has been postponed to 2021. More info will be provided.


ERN-RARE-LIVER. The School for Rare Liver Diseases: Improving diagnosis and care. POSTPONED to 18-19 June 2021. Hamburg, Germany.

Rare Liver Diseases are of increasing importance, and contribute a relevant proportion of the hepatological workload, especially in tertiary care centers. Care for Rare Liver Disease, like other liver disease, can only be provided with sufficient background knowledge and experience, which is very difficult to acquire in daily practice due to the relatively rarity of the respective disease.

The School for Rare Liver Disease aims at improving clinical knowledge for both paediatric and adult hepatologists, addressing particularly issues of transitional care such as paediatric liver transplant recipients becoming adults. In addition, organisation issues such as referral centers and the opportunities and chances through the new European Reference Network RARE LIVER will be discussed.

Application is open to young fellows under the age of 35 (born after 3 March 1985) and/or still in training. Travelling and housing costs will be covered.

Apart from lectures and group work on improving diagnosis and care for patients suffering from rare liver diseases, we are planning to present the school’s results in the form of webinars. On the evening of 3 July, participants can get a feeling of Hamburg’s hostspots.

Due to the Covid-19 outbreak, the even has been postponed to 17-18 June 2021. Further info will be provided in the upcoming months.

For more info click here. For any question, please contact: schools(at)

ERN-NMD. 3rd Neuromuscular Translational Summer School 2020. 6 – 10 July 2021. Leiden, Netherlands.

The Summer School has been postponed to July 2021 due to the Covid-19 crisis.

The EURO-NMD and TREAT-NMD building on the past two summer schools, organize this residential course that will furnish attendees such as researchers and clinicians with a well-rounded knowledge of the translational pathway. Attendees will also benefit from the very latest knowledge available in the neuromuscular community as this course is delivered by key stakeholder in the field.

Areas that were previously covered include…

  • Neuromuscular diseases and current care and management practices
  • Bench to bedside research
  • Challenges for rare disease therapy development and networking solutions
  • Tools of the trade for preclinical research.
  • An introduction to TACT (TREAT-NMD Advisory Committee for Therapeutics) and a TACT mock review session
  • Introduction to clinical trials
  • How the regulatory system works
  • The Industry perspective on drug development for rare diseases
  • Outcome measures used in clinical trials
  • TREAT-NMD tools for clinical trials
  • Biomarkers
  • PROM development
  • Post-marketing

To ensure a high-quality learning environment class sizes are kept deliberately small. With this in mind, it is recommended applying promptly to ensure the maximum chance of successfully securing a place at their next Summer School.

Registration is open, for more info and application form click here.

GA4GH 8th Plenary Meeting. 29 – 30 September 2020 | ONLINE

The 8th Plenary will bring together organizations and stakeholders from the genomics and health community for two days of keynotes, talks, updates, and workshops that will focus on advancing development work for the immediate data sharing needs of the community.

The meeting will consist of four session blocks convenient to different time zones. All talks will be available online after the meeting.

More info can be found here.

Exploring Human Host-Microbiome Interactions in Health and Disease. 21-23 October 2020 | ONLINE

The 9th Exploring Human Host-Microbiome Interactions in Health and Disease meeting will once again bring together leading scientists and clinicians from the fields of microbiology, gastroenterology, neuroscience, cancer and public health to discuss the latest developments in this fast-moving area.

Recent studies have revealed the complexity of the gut microbial ecology and its network connectivity to the metabolic regulation of important pathways in the host. Studies on microbiota from various body sites are helping us to understand how microorganisms affect the host. Alterations in microbiome composition have been associated with many non-infectious diseases including inflammatory bowel conditions, autoimmune diseases, cancers and diabetes, although in many cases causality has yet to be established.

This meeting will update current knowledge of how various microbiomes (skin, oral, gut, lung, non-bacterial etc.) communicate with the host and the factors that influence these interactions. The program will feature new developments enabled by new technologies. Attendees will have the opportunity to participate in discussions on how to apply recent discoveries to disease processes, health restoration and maintenance.

More info can be found here.

BioHackathon 2020. 9-13 November 2020 | Barcelona, Spain

BioHackathon activities are driven by practical sessions where people gather, discuss, and implement ideas/projects during intensive and productive coding sessions. The topics will be aligned to challenges proposed by ELIXIR platforms and and a set of common challenges proposed by the sister BioHackathon organised in Japan.

Registration is free and it is now open for this year’s BioHackathon Europe. If you have any doubts, please contact them at biohackathon-europe(at)

More info can be found here.

INFRAFRONTIER Training Courses

The INFRAFRONTIER Research Infrastructure and its partners offer a wide range of state-of-the-art training opportunities: Mouse clinics in different European countries provide outstanding trainings in first-line mouse phenotyping as well as specialised phenotyping courses covering e.g. mouse osteology and mouse blood and lymphatic vessel phenotyping.

The INFRAFRONTIER courses cover unique training opportunities in mouse model development as well as hands on cryopreservation courses offered by EMMA partners for many years.

The complete list of Upcoming Courses 2020 can be found here.

ERNs webinars