”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 [...]



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 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 [...]



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 [...]



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, [...]



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/