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

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Mooc new

New: continuous enrollment

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 [...]

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Journal of Rare Diseases (JORD)

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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 [...]

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ERN Research Mobility Fellowship funding opportunity

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research-mobility-fellowship-2022

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 [...]

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ERICA Collaborative inter-ERN Research Matchmaking Tool

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ERICA Research Wall

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

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 ERN-MATCH (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 [...]

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

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ERN Workshops (22)

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 [...]

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International Summer School on Rare Disease Registries and FAIRification of data

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RD Training Course

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/

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ERN Workshop Functional exploration of genetic variants in cardiac diseases

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ERN Workshops (25)

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, [...]

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Explore the Rare Diseases Clinical Trials Toolbox

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Clinical Trials Toolbox

Drug development programmes in rare diseases have many challenges, some of which differ from those facing researchers working on common diseases, like the lack of clinical research experts and the scarcity of patients. Moreover, academic sponsors and investigators end up getting involved not only in the scientific aspects of the research but also having to navigate the operational coordination and management themselves. The Rare Diseases Clinical Trials Toolbox has been developed as a practical aid for developers of clinical trials on medicinal products for human use regardless of therapeutic area.

The toolbox aims to collect the accumulated knowledge, experience, and [...]

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ERICA WP3 ‘Patient centred research’ Expert Working Group Kick-off Meeting 8-10 March

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WP3 PCEWG meeting
On the 8th and 10th of March it has been held the Kick-off Meeting of the ERICA WP3: during the 2 sessions the team and participants have discussed about PROMs for Rare Diseases and how to build an accessible repository.

View the event

The general framework of the ERICA project’ WP3 is Patient Centered Research for Rare diseases. WP3 is led by Ana Rath and María del Mar Mañú Pereira, respectively from Orphanet and ERN-EuroBloodNet, in collaboration with MAPI Research Trust.

Specifically, [...]

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The European Rare Disease Research Coordination and Support Action (ERICA) 1 year!

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erica-start

One year ago, on March, 1st 2021 the European Rare Disease Research Coordination and Support Action (ERICA) started officially! The aim of the ERICA consortium, in which all 24 European Reference Networks (ERNs) take part, is to build on the strength of the individual ERNs and create a platform that integrates all ERNs research and innovation capacity.

It has been challenging year due to Covid circumstances, but nevertheless productive year with great start of the different WP-specific activities and their Expert Working Groups. Great work has been done by ERICA’s enthusiastic WP-leads/board members, [...]

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