”MOOC on Diagnosing Rare Diseases: from the Clinic to Research and back

ERN Workshops (30)

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.

Registration and more



The Statistical Evaluation of Surrogate Endpoints in Clinical Trials


As part of the training activities proposed by the EJP RD, a 2h30 training course titled “The Statistical Evaluation of Surrogate Endpoints in Clinical Trials” is being organised.

The fully online event will take place from November 18th.

The aim of the lecture is:

To get an overview of the methodological developments in surrogate endpoint evaluation over the last 30 years To understand practical use To understand promise and limitations To understand how they can be useful in the context of rare diseases

This training is at an advanced level course. While an overview will be given, without all technical [...]



EJP RD training: Biobanking in rare diseases: the Poland experience

Biobanking in rare diseases the Poland experience

Through the last decade access to modern healthcare has improved significantly. The lack of scientific knowledge about rare diseases (RDs) often results in a delay in diagnosis or availability of effective cures for the patients struggling from rare diseases. There is a need to connect international experts, researchers and clinicians to extend rare diseases knowledge and provide effective treatment that improve the prognosis or life comfort of patients.

Biobanks have an infrastructure that ensures sustainability and expansion of the quality management for the preservation, storage, distribution and analysis of human biological samples. The availability of novel information technologies offers the [...]



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.



ERN Research Mobility Fellowship funding opportunity!


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 [...]



Rare Diseases Training and Education

Quality assurance, variant interpretation and data management in the NGS diagnostics era

Registration deadling: August 15th

As part of the training activities proposed by the EJP RD, a 3-day training course titled “Quality assurance, variant interpretation and data management in the NGS diagnostics era” is being organised by Universitätsklinikum Tübingen, in close collaboration with EJP-RD task partners, aimed the international research community: clinicians, medical specialist, laboratory scientists (EBMG-registered), junior laboratory scientists, clinical geneticists, policy makers and assessors for laboratory accreditation, and patient representatives with a basic knowledge in biology or medicine.



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, [...]



ERNs needs on data analysis (questionnaire& pre-registration):Bring your Own Omics Data Workshop

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

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 [...]



The Innovation Management Toolbox (IMT)

Innovation Management Toolbox

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)” video now available


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 analysis

You 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/