This is the outcome of the latest international FAIR meeting on data visiting for Duchenne and other Rare Diseases, where training needs by various stakeholders were identified. It is an opportunity to understand how the FAIR principles framework makes sure that valuable data are found and reused by others to boost research and earlier diagnosis.

Learning objectives

• To understand the value and benefits of FAIR
• To show the participants tangible examples on how to query FAIR data
• To know what is needed to get started with a FAIR-related project

Time and location
7 – 9 March 2023 (Mornings) | Online
The training will be given through a Zoom webinar.

Registration
Registration is required. Click on the button below to register for the FAIR training before 20th February 2023.
The webinar link will be sent to you after registration.
Please register here before 20th February 2023

Target group
We invite all representatives of rare disease patient organizations, healthcare providers, researchers, funders, data stewards, or anyone interested in finding out more about how to make data Findable, Accessible, Interoperable and Reusable for both humans and machines to attend.

Cost: Free

Training outline
You’re welcome to attend the full or part of the program.

Programme and more information here.

The player starts the game on the top left corner of the board and moves around clockwise one tile at a time. Follow the link to fully explore the game!

Link: https://www.ejprarediseases.org/fairopoly/

The in-person training will take place from September 26th – 30th at ISS in Rome, Italy. The training course may be adapted to an online format in case of uncertainty due to the evolution of the Covid-19 pandemic, or of other adverse conditions that might occur.

The training course consists of two modules, and registration is possible for either module separately or for the course as a whole:

• “Rare Disease Registries”, September 26th – 28th
• “FAIRification of Data”, September 29th – 30th

Registration is currently open but will close on April 13th. As each training module is limited to 30 attendees, those chosen to participate from among the applicants will be informed by May 3rd, with a reserve list open until May 20th (if the training is delivered face-to-face) or September 9th (in case of online delivery).

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

This in-person event will take place in Basel, Switzerland over three days from November 2nd–4th.

With over 250 senior executive speakers across 19 stages (see agenda), the Congress will have industry and thought-leading topics bringing together the whole value chain to drive home the message that no matter what area of the healthcare system or pharmaceutical industry you find yourself in, one thing is clear – data is key.

The following session feature the involvement of EJP RD members:

• Day 1 (Nov 2nd): 17:20 Empowering Data Analysis: Lessons from Rare Diseases (Marco Roos, Chris Evelo, Sergi Beltran, Christine Durinx, Andrea Splendiani, Peter Goodhand [tbc])
• Day 2 (Nov 3rd): 16:40 FAIR in Action – Successful Implementation of Principles (Marco Roos)
• Day 3 (Nov 4th): 11:50 EJP RD – How creating the rare diseases research ecosystem can help in providing diagnosis to all RD patients within one year of coming to medical attention? (Dr. Daria Julkowska, Coordinator of the EJP RD)

More information and registration here: https://www.terrapinn.com/conference/biodata/index.stm

Since the EC recommends that proposals try and take stock of the FAIR guidance and other models and strategies developed by the EJP RD and relevant EU-funded projects, the EJP RD has made available multiple services for prospective applicants

The call is currently accepting proposals that meet the following requirements:

• Aim to develop therapies for rare diseases with no approved therapeutic option, focusing on group(s) of rare diseases with commonalities, such as shared biological features, and should NOT address a single disease only.
• The therapies to be developed may include a broad family of therapeutic interventions, such as small molecule(s), advanced therapy medicinal products, repurposing of existing medicinal products, including non-pharmacological interventions and/or their combinations, as relevant.
• To ensure that the needs of people living with a rare disease are adequately addressed, the involvement of patient representatives in all phases of the research and development process is strongly encouraged.
• Rare infectious diseases and rare cancers are excluded from this topic and will not be considered.

The topic will support proposals covering several different stages in the continuum of the innovation pathway (i.e., translational, preclinical, clinical research, validation in the clinical and/or real-world setting etc.), as relevant.

The funding call has the following deadlines: February 1^st, 2022, and September 6^th, 2022

For more information:

Click here to read the full report

In order to improve care and get insights to enhance future research, optimal (re)use of data collected from Duchenne and Becker patients is of the essence. For this reason, the Duchenne and Becker Muscular Dystrophy (DMD and BMD) community has been working on making DMD/BMD data FAIR since 2018. FAIR Data means your data is Findable, Accessible, Interoperable, and Reusable for both humans and machines. Patient organizations are key drivers of the FAIRification process in practice, and dialogue with stakeholders is critical to success.

Data of people living with Duchenne and Becker Muscular Dystrophy (DMD and BMD) are collected by researchers, in the health system and by themselves through Patient Reported Outcomes and wearables. In 2019, the World Duchenne Organization published the Duchenne FAIR Declaration, highlighting the need for optimal (re)use of data. Currently, the data are often kept in different data systems. Use and reuse is prevented by technical barriers, or problems with ownership, control, data protection and security. The failure of connecting data hampers the discovery of new diagnostics, treatments, healthcare policies, and the use of data by the patient themselves. Each, which can benefit people living with DMD and BMD greatly.

The report of the second virtual meeting summarizes the presentations and discussions of the meeting on March 3. In addition to this, it provides an overview of the key lessons learned since the first meeting, and outlines the next steps. Participants included representatives from patient organizations, clinicians, clinical and academic researchers, pharmaceutical companies, regulators, FAIR Experts and EU organizations. The wide spectrum of stakeholders shows convergence of interests, alignments of efforts and willingness to overcome any obstacles in order to build a solid ecosystem for FAIR data sharing of patient-derived data (e.g. disease or patient registries) at a European level – this is what rare disease patients like DMD/BMD really want.

For any additional information, please contact Nawel van Lin (nawel [at] worldduchenne.org).

The VASCA registry has implemented de novo FAIRification, thereby making all data FAIR automatically and in real-time upon collection. In practice, this means that all the hands-on work for the FAIRification is conducted before data collection. Subsequently, data is made FAIR through entering them into the Electronic Data Capture (EDC) system Castor EDC. This has the advantage that clinical data is made FAIR without any intervention from data management and data entry personnel. Due to the generic approach and developed tooling, the VASCA working group believes that the method can be used in other registries and clinical trials as well.

The VASCA working group has recently published two papers (open access) on the setting up of their FAIR registry. The paper by Groenen et al. includes a more general description of the workflow developed and explains how all these steps contribute to FAIR. Also, the lessons learned are shared in this paper. The paper by Kersloot et al. focuses more on the technical implementation of the workflow in Castor EDC.

The workflows, technical implementations and lessons learned described in these papers are of valuable help for other rare disease registries, and the working group believes that they have set an important example. 

The FAIR VASCA registry project was supported by EJP RD FAIR experts and the FAIRification stewards and participated actively in EJP RD workshops. Resources used in the FAIRification of the VASCA registry, such as the semantic data model of the set of common data elements, were co-developed with EJP RD experts and are now openly available for the rare diseases community. 

The fully online event will take place from September 27th – October 1st and is composed of two learning modules: a three-day module (September 27th–29th) that will cover rare disease registries and a two-day module (September 30th–October 1st) on the FAIRification of data.

Registration is currently open but will close on July 11th. As each training module is limited to 30 attendees, those chosen to participate from among the applicants will be informed by July 30th, with a further waiting list open until September 12th.

Both modules will feature interactive plenary presentations and Q&A sessions between speakers and participants, with the second module also offering hands-on exercises.

More information and registration here: https://www.ejprarediseases.org/event/training-on-rare-disease-registries-and-fairification-of-data-at-the-source/

The webinar will take place on May 26, 2021 from 14.00 – 15.00 CET.

The event will include a presentation of the FAIR Cookbook by the resource’s developers and project coordinator and is targeted towards:

• Data scientists
• Data stewards
• Curators
• Staff supporting and training researchers to make data FAIR
• Policymakers recommending useful FAIR-enabling resources and training materials to their community
• FAIR experts interested in contributing

More information and registration here: http://fairplus-project.eu/about/news/cookbook-webinar