In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “Epidermolysis bullosa: from genes to translation into therapies” is being organized by Prof. Dr. Cristina Has of the University Hospital Freiburg.
The in-person event will take place on 23-24 March 2023 in CIBSS – Centre for Integrative Biological Signalling Studies in Freiburg, Germany.
Registration is open until December 15th.
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.
The European Joint Programme on Rare Diseases (EJP RD) is glad to announce that the last round for the Research Mobility Fellowships funding opportunity is now open until November, 13th, 2022. The call aims to support PhD students, postdocs, and medical doctors in training to undertake scientific visits fostering specialist research training outside their countries of residence.
The exchange can be carried out (1) within the same ERN (Full Members and Affiliated Partners), (2) between different ERNs (Full Members and Affiliated Partners), or (3) between ERN Full Members / Affiliated Partners and non-ERN institutions.
Either home or host (secondment) institution [...]
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 [...]
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 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/
The ERICA 2nd General Assembly took place in Bologna, Italy as a hybrid meeting.
We had three productive days full of interactive sessions and we are thankful for everyone’s active contributions both in Bologna and remotely.
All the presentations are now available at the ERICA Website
Download ERICA 2nd GA Summary Report (, 666 KB)
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 [...]
On June 30th, 2022 EJP RD has launch the Innovation Management Toolbox (IMT), a free-to-use and curated reference library of resources in rare disease translational medicine that will provide investigators with self-help resources specific to their needs. The database will be maintained actively!
Learn about the IMT: https://www.ejprarediseases.org/innovation-management-toolbox/ Access the IMT: https://imt.ejprarediseases.org/
Video tutorial for users: https://youtu.be/H92b6WEWFhw
The webinar on “Composite endpoints including patient relevant endpoints (Quality of Life)” is now available here
In this webinar you will learn about:
The procedures to combine multiple endpoints and its limitations The properties and the flexibility of the class of generalized pairwise comparison tests The potential advantages and disadvantages of designing a clinical trial in rare disease with generalized pairwise comparisons primary analysisYou can watch also webinar on Randomization procedures in Rare Disease Clinical Trials here.
All the available ERN Research related webinars: https://erica-rd.eu/events/webinars/