Coming Together to Shorten the Path to Rare Disease Diagnosis – First Face-To-Face Meeting of the Screen4Care Partners Held in Ferrara, Italy

The location for the long-awaited first in-person Annual Meeting of Screen4Care could not have been more welcoming than the beautiful city of Ferrara, Italy. From March 6th to 7th, 36 project partners and over 100 attendees gathered, in person and virtually, to review the progress made since the project’s inception in 2021 and discuss upcoming plans.

Alessandra Ferlini, scientific coordinator of the project, and Nicolas Garnier, EFPIA Lead, opened the meeting by welcoming the participants and setting the stage for a productive get-together. Institutional greetings from Laura Ramaciotti, Rector of the University of Ferrara, and Giuliana Fabbri, Hospital General Director of Ferrara, completed the opening session.

The morning continued with a presentation by Klelia Salpea, IHI Officer of the European Commission, providing a deeper understanding of the European funding context in which the project takes place. Next came speeches from Petros Tsipouras, Director of the Beginnings Newborn Sequencing (BeginNGS) Greece programme, David Bick, Principal Clinician for the Newborn Genomes Programme at Genomics England and member of Screen4Care’s Scientific Advisory Board, and finally Simona Bellagambi, Deputy General Secretary of EURORDIS-Rare Diseases Europe and member of Screen4Care’s Patient Advisory Board.

In the afternoon, there were breakout sessions for the Work Packages teams, which provided an opportunity for participants to engage in focused discussions on specific tasks related to their assigned Work Package. A session on data sharing in the project was followed by a session in which the different partners could discuss how their work is interconnected and how they could collaborate to optimise workflows and outputs. The first day of the meeting ended with a delightful joint dinner in an Italian style.

The second day was dedicated to sessions on the progress of the individual Work Packages. The different leads presented not only all that their teams have achieved in the first year but also shared information on the challenges ahead and their plans to familiarise everyone with the current status of all project components.

The Screen4Care Meeting was a productive and informative event with presentations, breakout sessions, and interrelation sessions that paved the way for all partners to come back with the spirit and the information necessary to keep making a much-needed impact on the lives of people living with rare diseases.

Displayed below are images captured during the meeting, accompanied by comments shared by consortium members

Alessandra Ferlini
Project Scientific Coordinator, University of Ferrara

Hosting the Screen4Care meeting at the University of Ferrara was a great honor and pleasure! In the end, colleagues were already excited to plan the next get-together, which is a testament to the meeting's big success for everyone involved. Also, we were able to nurture the Screen4Care culture more than we ever could have during the months of virtual work amidst the pandemic.

Nicolas Garnier
EFPIA Lead, Pfizer Inc.

The annual meeting was amazing! It was energizing to see so many experts working with such passion and dedication towards a shared goal. Having our patient advisors with us was also a unique opportunity because they are our North Star. In just two days, I believe that we accomplished what would have taken months of work, conversations, and decisions and inspired each other to move forward.

Dr. Edith Sky Gross
EURORDIS-Rare Diseases Europe

The Screen4Care annual meeting was an incredible opportunity to engage with a multitude of experts and a range of stakeholders, including public partners, industry leaders, and patient representatives, all working to make the diagnosis of rare diseases easier, more accessible, and more efficient. This was a spectacularly eye- and mind-opening meeting.