RE(ACT) Congress & IRDiRC Conference-SAVE THE DATE 15-18 March 2023

The Blackswan Foundation , IRDiRC and EJPRD are hosting the 7th RE(ACT) Congress and 5th IRDiRC Conference that will be held in person in Berlin, Germany from March 15th – 18th, 2023.

The joint event “RE(ACT) Congress and IRDiRC Conference 2023” aims to bring together scientific leaders and experts and young scientists from various breakthrough scientific fields to present cutting-edge research, exchange ideas, and discuss rare diseases research policies. Patients and patient organizations committed to research will also be in attendance to share their experiences and perspectives.
The RE(ACT) Congress and IRDiRC Conference 2023 represents an exciting program with outstanding speakers and an in-person event with multiple ways of networking!

Benefit from the early registration before the October 15th to pay a lower fee!
More information here:

EJP RD training on Genetic biobanks for Rare Disease Research

University Medical Centre Groningen (UMCG) and Fondazione Telethon (FTELE) along with other EJP RD partners are organizing an EJP RD Training Workshop titled “Genetic Biobanks for Rare Disease Research” targeted at biomedical researchers, medical professionals, and biobank managers who want to learn about genetic biobanks in rare disease research.
The training workshop will take place over two days on June 14th – 15th from 09.00 – 17.00 CET.
The training workshop is organized as a series of lectures presented by experts in the specific topics. The first day of the training will focus on Data Management and Tools. The second day will cover the ELSI aspects biobankingEuropean privacy regulations (GDPR)ELSI considerations in genetics, and the stainability of biobanks including a discussion on public-private collaborations.
Registration for the workshop is free but mandatory and open to the international research community, clinicians, medical specialists, RD biobank managers, healthcare professionals and RD patient representatives.
Registration closes on May 29th, and those selected to participate from among the applicants will be informed of their selection on June 2nd. More information and registration here:

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

The third run of the MOOC (Massive Open Online Course) “Diagnosing Rare Diseases: from the Clinic to Research and back” co-developed by EJP RD, ERN IthacaERN GENTURIS and the French Foundation for Rare Diseases has opened on April 18th.

Registration is free and open at this link.

We specifically encourage medical and biomedical science students to register and follow the MOOC. The topics covered include:

  • The diagnostic process and the types of genetic tests available for rare diseases
  • The differences in rare genetic diseases patient pathways
  • Technological advances for diagnostic research
  • The role of collaborative studies and data sharing in rare diseases diagnosis
  • The impact of having a diagnosis or lacking a diagnosis on patients’ lives
  • The role and place of physiopathology approaches as well as social sciences research in the context of rare diseases diagnosis.

Journal of Rare Diseases (JORD)

Happy to share: the birth of the Journal of Rare Diseases (JORD) published by Springer

Journal of Rare Diseases is an open access, peer-reviewed journal with clinical and basic research interests in rare and genetic diseases. The journal welcomes submissions in all fields of rare diseases. In addition to original research articles, the journal publishes reviews, letters to the editor, case reports, and short communication, thereby providing a forum for discussions on cutting edge perspectives in the field of rare diseases.

  • Uniquely dedicated journal to rare diseases in the region.
  • Growing interest and steadily increasing publications in the field of rare diseases regionally and globally.
  • Internationally diverse Editorial Board.

JORD has the advantages of being an open access journal with rapid handling of submitted manuscripts and NO article processing charges.

ERN Research Mobility Fellowship funding opportunity

EJP RD is glad to announce that today (May 2nd) the opening of the call for Research Mobility Fellowships, which aims to support PhD students, postdocs and medical doctors in training to undertake scientific visits fostering specialist research training outside their countries of residence.

Deadline: 13 June

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 must be a Full Member or Affiliated Partner of an ERN at the time when the application is submitted, as well as during the proposed period of the training stay.

Successful applicants should acquire new competences and knowledge related to their research on rare diseases, with a defined research plan and demonstrable benefit to the ERN of the home and/or host institution.

The research mobility fellowships are meant to cover stays of 4 weeks to 6 months duration.

More information here.

Training Webinar: Does Randomization matter in RD clinical trials?

As part of the EJP RD Training series, an advanced-level training webinar on the topic “Does Randomization matter in RD clinical trials?” (held on 14.12.2021)

The training consists of two parts: a 1.5-hour training in less frequently applied randomization procedures and their performance on the level of evidence, followed by 1 hour of panel discussion with experts from regulatory, pharma-industrial, academic, and clinical fields.

Rare Diseases (RD) is an area where national and international multidisciplinary collaborations are valuable to overcome some of the present challenges in research. Comparative trials serve as a major basis for evaluation of new therapies in RD patient care. Randomization as tool for treatment allocation in comparative trials and blinding are the accepted standard tools to enable a fair treatment comparison by mitigating bias. The unique challenges of RD clinical trials originate from the limited sample size and heterogeneity in the patient population, so that researchers may think about restricting or totally avoiding randomization. Recent findings underpin the view, that randomization in small populations clinical trials like in RD is different from classical clinical trials. Regardless of this difference in the value of randomization, in RD clinical trials, more attention should be payed to the selection of the best performing randomization procedure. This offers on the one hand improved mitigation of bias, and on the other hand the potential for an alternative basis for the inference.

More information:


ERICA Collaborative inter-ERN Research Wall

ERICA new matchmaking tool for ERNs: inter-ERN Research Wall: Research Wall | ERICA (

ERICA aims to promote collaborative inter- ERNs research projects. It is therefore crucial to have a centralised location to announce any new project and search for collaborators. A specific web page has been created for this purpose on the ERICA website Research Wall (Please note that the current page only contains examples)

It provides basic information about the open calls for collaboration as well as contact details of the project PI. If you have any new inter- ERN project that you wish to advertise via this research wall, please fill the excel file with the project you wish to advertise and return to ERICA Coordinating office

Please note that only inter- ERNs collaborative projects will be advertised via this research wall.

The new projects will be regularly announced in the ERICA newsletters and twitter.  Additionallyif you wish to receive updates directly by email, we kindly ask you to REGISTER HERE

ERICA 2nd General Assembly 20-22 June 2022, Bologna, Italy

European Rare Disease Research Coordination and Support Action- ERICA 2nd General Assembly will be held 20-22nd June in Bologna, Italy.

Opening Monday 20 June 16:45 CET 2022



Rare Disease Clinical Trial Webinar: Composite endpoints including patient relevant endpoints (Quality of Life)

When assessing the efficacy of a treatment in any Clinical Trial, it is recommended by the International Council for Harmonisation to select a single meaningful endpoint. However, a single endpoint is often not sufficient to reflect the full clinical benefit of a treatment in multifaceted diseases, which is often the case in rare diseases. Therefore, the use of a combination of several clinical meaningful endpoints is preferred. Combining endpoints on a test statistics level or on the level of p-values, in general, ignores the correlation between the endpoints, while combining information on the subject level in composite endpoints does allow to take correlation into account. Standard methods of analysis for a composite endpoint, however, are limited in a number of ways, not the least in the number and type of endpoints that can be combined as well as its poor small sample properties. The recently proposed class of non-parametric generalized pairwise comparison methods on the other hand allow for any number and type of endpoints and has good small sample properties. Moreover, this very flexible class of methods allows for prioritizing the endpoints by clinical severity, for matched designs and for adding a threshold of clinical relevance.

Our main focus will be on introducing the generalized pairwise comparison ideas and concepts as well as demonstrating its benefit in small sample trials, more particularly in including patient relevant endpoints, such as quality of life (QoL). Knowledge of common statistical inference terminology is essential to successfully follow the course.


More info: