In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “EJP RD – ERN Workshop: RARE TOGETHER” is being organized by Dr Rosanne Smits from Radboud University Medical Center.

The in-person event will take place on 8-9 May 2023 at Van der Valk Hotel in Nijmegen-Lent, The Netherlands.

Registration is open here, and closes on February 1st.

The workshop, open to all research levels and aims to to raise awareness for the psychosocial impact of having a rare disease and form a group of researchers in the mental well-being and social sciences domain for rare diseases.



ERN-ITHACA Multidisciplinary Fetal Diagnostics Winter School

ERN Ithaca Winter School

The ERN-ITHACA Multidisciplinary Fetal Diagnostics Winter School will be held in Paris, December 7-8, 2022.

This Winter School aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. To finalize, the program will bridge the addressed fields with interdisciplinary case discussions.

The course is open to specialists and specialists in training in the fields of clinical and laboratory genetics, bioinformatics, obstetrics, pathology with a special interest in prenatal medicine.

The program gathers excellent [...]


International Conference on Clinical Research Networks for Rare Diseases

International Conference on Clinical Research Networks for Rare Diseases

The International Rare Diseases Research Consortium (IRDiRC) and the European Joint Programme on Rare Diseases (EJP RD) are jointly organizing a two-day conference on clinical research networks (CRNs) for rare diseases, which will take place on December 1 and 2. The objective of this conference is to gather experts from different continents to increase mutual knowledge on CRNs structure, activities and identify pathways to stimulate collaboration and interoperability of these networks.

It is not possible anymore to register for in-person participation, but you can register for the online participation.


WP5 Educational Webinar 2 “Practical guide on how to use the Catalogue of services and the IMT”


In this webinar, Anton Ussi (Operations & Finance Director at EATRIS), Rosan Vegter (Scientific and Education Manager at EATRIS) together with Agustin Arasanz Duque (Senior Innovation Manager at VHIR/EATRIS), provided practical guidance for using two important tools for RD researchers, developed within EU-funded projects: ERICA and EJP RD. This webinar is part of the Educational Webinar Series from ERICA’s WP5 Translation and Innovation. It builds on the introductory webinar “Current research services available for the rare diseases community” that was organized in November 2021 (available on the ERICA website


IRDiRC Announces The Creation of Regulatory Science Committee to Tackle Regulatory Challenges in Rare Disease Research

IRDiRC Designs (7)

IRDiRC, a global collaborative initiative with the vision to enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention, today announced the formation of the Regulatory Science Committee (RSC). The new RSC “brings broad expertise across different stakeholders and geographies allowing for a balanced synergy that will provide insights and guidance into the advancement of IRDiRCs mission” said David A. Pearce, Chair of IRDiRC.

Read the full press release here.


ERN Data Management Strategy Workshop in Heidelberg on the 17th-18th of October 2022

group phto

WP2 ERICA WP2 Data Collection, Integration and Sharing organised a face-to-face workshop on building an ERN Data Management Strategy Workshop in Heidelberg on the 17th-18th of October 2022. This multi-stakeholders workshop focused on developing a strategic and operational ERNs Data Management Strategy.

Session Presentations

The presentations of the workshop sessions are now available. In order to download the presentations a password is required. Please request access via ERICA office.


Bring Your Own Omics Data workshop (BYOOD) workshop 17th-18th November 2022, Nijmegen, NL

EJP RD Quest

ERNs needs on data analysis (pre-registration)

The Bring Your Own Omics Data workshop (BYOOD) workshop (17th-18th November 2022) is aiming to help ERNs to optimise and integrate their omics data, initiate network analysis, and continue collaborations with the data analysis team.

If you are part of the ERN, please help the EJP RD workshop organising team to further understand what your ERNs needs on data analysis are and complete this pre-registration from by the 2nd of September 2022 through the following link (takes only few minutes!):



The Smart Guidance tool for the FAIRification of rare disease registries


The Smart Guidance tool for the FAIRification of rare disease registries was released on the 18th of July. This is a questionnaire-based tool built on the Data Stewardship Wizard that will guide users (e.g., data stewards) through the process of making their registry more FAIR. It covers various aspects like the composition of the FAIRification team, best practices for data representation, and giving access to your data.
The tool is accessible via: https://smartguidance-rd.ds-wizard.org/ (after signing up)
The User Guide is available here which gives you guidance on how to get started on a Smart Guidance project [...]


Open Funding Call

Networking Support Scheme Submission

Deadline: September 1st.

The Networking Support Scheme is back. The aim of the NSS call is to encourage knowledge-sharing between health care professionals, researchers and patients on rare diseases and rare cancers, as well as to enable or increase the participation of usually underrepresented countries in Europe in new and existing research networks. Eligible applicants are health care professionals, researchers, and patient advocacy organisations from the following countries involved in the EJP RD: Armenia, Austria, Belgium, Bulgaria, Croatia, Czech Republic, Denmark, Estonia, Finland, France, Germany, Georgia, Greece, Hungary, Ireland, Israel, Italy, Latvia, Lithuania, Luxembourg, Malta, Norway, [...]


IRDiRC‘s Rare Diseases Research Initiatives State of Play 2019-2021 Report

State of play (1)

IRDiRC is pleased to announce that the IRDiRC‘s Rare Diseases Research Initiatives State of Play 2019-2021 Report will be published on Tuesday, 05 July 2022.
This report is based on scientific articles and press releases published between 2019 and 2021; it seeks to inform stakeholders and the rare diseases community about the developments and observed trends in the field of rare diseases research. A chapter is dedicated to an update on the global rare diseases research landscape for the past ten years to celebrate IRDiRC’s 10th anniversary.
More information here: https://irdirc.org/resources-2/state-of-play/