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

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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: https://www.ejprarediseases.org/save-the-date-react-congress-and-irdirc-conference-2023/

 
 
 
 
 
 

EJP RD training on Genetic biobanks for Rare Disease Research

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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 biobanking, European 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: https://www.ejprarediseases.org/event/genetic-biobanks-for-rare-disease-research-2/

 
 
 

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

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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 Ithaca, ERN 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)

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

https://www.springer.com/journal/44162

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

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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.

 
 
 

ERICA Collaborative inter-ERN Research Wall

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ERICA new matchmaking tool for ERNs: inter-ERN Research Wall: Research Wall | ERICA (erica-rd.eu)

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.  Additionally, if you wish to receive updates directly by email, we kindly ask you to REGISTER HERE

 
 
 

ERN Workshop Modelling & Simulation: Research Methodologies for Small Populations in Rare Diseases

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In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “Modelling & Simulation: Research Methodologies for Small Populations in Rare Diseases” aimed at facilitating discussion and exchange of knowledge on the M&S methodologies and strategies as innovative and promising enough for facing complex multifactorial or rare diseases and conditions that require highly specialised treatments and resources is being organised by Donato Bonifazi of the Consorzio per Valutazioni Biologiche e Farmacologiche (CVBF).

The in-person event will take place over two days on July 4th – 5th at the Hotel Excelsior in Bari, Italy.

The workshop is open by prior registration and selection to PhD students, post-doc researchers, senior scientists, young clinicians, investigators and academics and who are employees of or affiliated to an ERN Full Member or affiliated Partner institution.

The training workshop is free of charge and the training methodology will be based on lectures, seminars, and practical sessions, aimed at providing concrete research skills.

Registration closes on May 31st! 

More information and registration here: https://www.ejprarediseases.org/event/modelling-simulation-research-methodologies-for-small-populations-in-rare-diseases/

 
 
 

International Summer School on Rare Disease Registries and FAIRification of data

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International Summer School on Rare Disease Registries and FAIRification of data, 26th-30th September 2022, Istituto Superiore di Sanità (ISS), Rome

REGISTRATION IS NOW OPEN HERE until the 13th of April 2022.

26th-30th September 2022. This course is foreseen as a face-to-face training at Istituto Superiore di Sanità Rome, with the eventuality of an online adaptation, according to the evolution of the pandemic situation or of other adverse conditions that might occur. The face-to-face or online delivery of the training course will be decided and communicated to the selected participants by the 3rd of May 2022.

More info: https://www.ejprarediseases.org/event/international-summer-school-on-rare-disease-registries-and-fairification-of-data/

 
 
 

ERN Workshop Functional exploration of genetic variants in cardiac diseases

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In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “Functional exploration of genetic variants in cardiac diseases” aimed at presentation of functional explorations of variants of interest identified using Drosophila, C. elegans, Zebrafish and iPSc models to understand the molecular bases of genetic diseases, in particular heart and muscle diseases, is being organised by Philippe Chevalier of the Hospices Civils de Lyon.

The in-person event will take place over two days on June 14th – 15th at the Hospices Civils de Lyon in Lyon, France.

The workshop is open by prior registration and selection to cardiologists, molecular biologists, post-docs, medical fellows, and PhD students and who are employees of or affiliated to an ERN Full Member or affiliated Partner institution.

The training workshop is free of charge and consists of interactive presentations and discussions.

Registration closes on May 1st, and those selected to participate from among the applicants will be informed by May 9th of their selection.

More information and registration here: https://www.ejprarediseases.org/event/ejp-rd-ern-workshop-functional-exploration-of-genetic-variants-in-cardiac-diseases/