The Screen4Care Consortium Meets Again – Second Face-to-Face Consortium meeting in Copenhagen, Denmark

We are thrilled to share the highlights of our highly successful 2nd in-person meeting, held on April 25-26, 2024, in Copenhagen, Denmark. This meeting brought together an esteemed group of experts and researchers in the field of rare diseases for two days of insightful discussions and collaborative sessions.

The first day commenced with an engaging opening by our host representative, Konstantinos Chatzidimitriou, who provided an overview of his company, Novo Nordisk, its rich history, and its mission to improve the lives of people living with a rare disease. Following that, Richard Roettger from SDU made a brief yet compelling presentation about the city of Copenhagen. The project coordinator Alessandra Ferlini from University of Ferrara and the project leader Aldona Zygmunt from Pfizer warmly welcomed the participants with their inspiring speeches, providing an overview of the current state of the project and setting the stage for the productive discussions ahead.

We were honoured to have esteemed external speakers join us for the event. Yanis Mimouni, representing the European Joint Programme on Rare Diseases, delivered a captivating speech titled "Connecting the dots in the rare diseases research ecosystem." The demonstrated insights shed light on the importance of collaboration and coordination in advancing rare diseases research. Additionally, Troels Rasmussen from the Danish National Genome Center shared his vision of how the Genomic Data Infrastructure can contribute to the Screen4Care project, offering valuable perspectives on leveraging genomic data for diagnostics. After a delicious lunch, our project scientists divided into breakout rooms to delve into detailed discussions on their findings. These breakout sessions provided a platform for in-depth exploration of ideas and fostered meaningful collaborations among the participants.

As the day drew to a close, we gathered at the spectacular restaurant in the Copenhagen Opera House, where participants not only savoured delectable food but also continued the discussions in a relaxed and convivial atmosphere.

The second day of the meeting focused on the progress of our work packages (WP). Each WP lead and their teams presented their advancements, showcasing the significant strides made in their respective areas. We were also delighted to have renowned scientists and members of our project Scientific Advisory Board in attendance, including Dr Annette Grüters, Dr Nicolas Garnier, Dr James Bonham, and the SAB Chairman, Dr Hanns Lochmüller. With Dr Francesco Muntoni and Dr David Bick, attending online, the SAB members shared their invaluable experience and unique expertise in rare disease diagnostics at a special SAB session, enriching our discussions and providing valuable guidance.

During the closing session, our project's scientific coordinator, Alessandra Ferlini, and project leader, Aldona Zygmunt, outlined the key action points and conveyed their sincere appreciation to all the participants for their efforts and commitment.

The 2nd in-person meeting was a remarkable gathering of passionate individuals dedicated to advancing rare disease research. The knowledge shared, collaborations formed, and insights gained will undoubtedly propel our project forward as we strive to make a meaningful impact on the lives of those living with a rare disease. We look forward to the continued progress and success of the project and eagerly anticipate the next gathering of our dedicated partners.