ERICA Newsletter Summer 2022 ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏
 
 
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ERICA 2nd General Assembly in Bologna, Italy

The ERICA 2nd General Assembly took place 20-22 June in Bologna as a hybrid meeting. Hosted by Istituto Ortopedico Rizzoli (IOR) and ERN BOND Coordinator.

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.  This was a great opportunity to discuss the progress and future of the ERN related Research activities and to participate in the WP-Specific Expert Working Group sessions to exchange the success stories and to brainstorm with the best experts on the field.

 
 
 
 
 
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New Matchmaking Tool for ERN Research Collaborations: The Inter-ERN Research Wall

As ERICA aims to promote collaborative inter- ERNs research projects, it is therefore crucial to have a centralised location to announce new projects and search for collaborators. A specific web page has been created for this purpose on the ERICA website- ERN Research Wall. This wall enables to submit your ERN initiatives to make it visible for all the other ERNs and to stimulate the cooperation in research activities. We have received more than 70 registrations for the mailing list to receive directly the Wall updates and the first ongoing potential initiatives are already being prepared.

 
ERICA Research Wall
 
 
 
 

Template Documents Generated for ERNs

ERICA and  EJP RD have developed a series customisable template documents that can be used by the European Reference Networks (ERNs) to obtain the consent of the patients to get their data included in the registry (Informed Consent Form) and establish their governance structure (Data Access Policy). Additionally, legal contracts to be used when data is transferred from an HCP to a central registry (Data Sharing Agreement) or from a registry to an external stakeholder (Data Transfer Agreement) are also provided. Please note that before the adoption of any of these templates in your registry, they need to be reviewed by a legal team.

 
 
 
 
 

Catalogue Translational Research Services: updated

To help the ERN community in understanding the process of translation and to support their collective ability to develop knowledge into patient benefit, a catalogue of current translational research services available to the rare diseases research community has been developed under the ERICA WP5. The catalogue (version 2022-06-28) lists various support services provided by national and European organisations and initiatives, ranging from samples, data & databases, technologies & facilities, models & tools to expertise & support. It was designed to be complementary to the resources and tools collected within the EJP RD’s Innovation Management Toolbox (IMT)

 
 
 
 

Repository of Rare Diseases' PROMs

The ERICA WP3 objective is to facilitate in Europe the adoption of Patient-Centred Outcome Measures (PCOMs) and Patient Reported Outcome Measures (PROMs) for rare diseases, standardized tools that consider patients and caregivers’ perspective in reporting outcomes and in the process making decision of health assessment. ERNs and their ePAGs can still contribute to the creation of the Repository of Rare Diseases’ PROMs:

You can help us identifying gaps of therapeutic indications where PRO are lacking or share with us the Clinical Outcome Assessment (COA) instrument you use by answering to the ERN survey: 

 
 
 
 
 

ERNs Potential to Perform Phase I Clinical Trials

Under the ERICA WP6 umbrella a central ERN research website is being developed. Main aim is to have a platform for patients, and for everyone involved in Rare Disease research, where they can identify the research activities of the collective ERNs for the sake of the patient. Recently the WP6 Expert WG initiated the mapping of the ERNs potential to perform the Phase I Clinical Trials in their expert centres. The survey is launched to gather information about ERN member institutions accreditation to perform Phase I Clinical Trials.

Please circulate this survey to your ERN members and their institutes.

 

 
 
 
 

Workshop “Ethics and regulatory considerations for ERN Data Access Committee members”

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Joint ERICA and EJP RD Workshop "Ethics and regulatory considerations for ERN Data Access Committee members" is now reviewable!

This workshop is the fourth of the ERN data strategy workshop series. It primarily aims to train the members of the ERNs Data Access Committee  on the legal and ethical aspects to consider when examining an incoming data access request.

The recording and all the presentations are now available!

 
 
 
 
 

Webinar "Composite Endpoints including Patient Relevant Endpoints (Quality of Life)"

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The webinar on "Composite endpoints including patient relevant endpoints (Quality of Life)" video recording is now available!

In this webinar you will learn about: 

  • The procedures to combine multiple endpoints and its limitations;
  • The properties and the flexibility of the class of generalized pairwise comparison tests;
  • The potential advantages and disadvantages of designing a clinical trial in rare disease with generalized pairwise comparisons primary analysis
 
 
 
 
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15-18 March 2023: RE(ACT) Congress & IRDiRC Conference

The joint event 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. This event represents an exciting program with outstanding speakers and an in-person event in Berlin, Germany from March 15th - 18th, 2023 with multiple ways of networking!

 
 
 
 
 
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Apply before August 14th, 2022 IRDiRC's Diagnostic Scientific Committee (DSC) identifies current and future bottlenecks to rare disease gene discovery, addresses challenges and roadblocks in rare disease diagnosis, and collaborates with international partners to develop tools and resources to facilitate genomic data discovery, analyses and sharing. DSC has three openings for new members who are clinicians and experts in genetics, genomics, bioinformatics, molecular diagnostics, and biochemistry.

State of play (1)

The International Rare Diseases Research Consortium (IRDiRC) is announcing the release of its Rare Diseases Research Initiatives State of Play 2019-2021 ReportThis 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. 

 
 
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Netwsupcall

Deadline: September 1st . The aim of the Networking Support Scheme 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 under-represented countries in Europe in new and existing research networks.

RDTrain

October 19th – 21th 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.

Registration deadline: August 15th

 
 
 
 
 
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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 IthacaERN GENTURIS and the French Foundation for Rare Diseases .

Registration is free and open

Innovation Management Toolbox

On June 30th, 2022 EJP RD has launch the Innovation Management Toolbox (IMT), a free-to-use and curated reference library of resources in rare disease translational medicine that will provide investigators with self-help resources specific to their needs. The database will be maintained actively!

 
 
 
 
 
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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.

 
 
 
 
 

Stay Tuned!

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All news and events are available at ERICA website. Check our ERICA website regularly for news updates and keep an eye on upcoming and previous events that can be reviewed! Disseminate relevant news to your network and subscribe to our Newsletter.

 

 
 
 
 
 
Want to know more about ERICA ?

Contact The ERICA Coordination  for more info and input for the ERN related activities to promote and present the most recent updates from ERICA!

Follow also ERICA on Twitter!                                                                @ERICA_RD_EU

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