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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.

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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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ERN Workshop on Endocrine cancer: A challenge in adults and children.

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ERN Workshops (9)

In the context of EJP RD’s ERN Workshops, a face-to-face workshop on “Endocrine cancer: A challenge in adults and children” aimed at giving an update on the molecular background and clinical management of rare endocrine malignancies is being organised by Prof. Barbara Jarzab of the M. Sklodowska-Curie National Research Institute.
The in-person event will take place on May 4th, 2022 at the M. Sklodowska-Curie National Research Institute in Gliwice, Poland.

Registration closes on January 28th, 2022

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EMA is launching a pilot to support the repurposing of established medicines for use in new indications by NGOs and academia.

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EMA medicines

EMA and the Heads of Medicines Agencies (HMA) are launching a pilot project to support the repurposing of medicines as a follow-up to the European Commission’s Expert Group on Safe and Timely Access to Medicines for Patients (STAMP) discussions on a proposal for a medicines repurposing framework.

The aim of this initiative is to support not-for-profit organisations and academia to gather or generate sufficient evidence on the use of an established medicine in a new Read