Highlights from the Successful Third In-Person Meeting in Turku, Finland

The Screen4Care consortium is excited to share the key moments from our third in-person meeting, held on March 13–14, 2025, in Turku, Finland. This event brought together leading experts and researchers in the field of rare diseases for two days of insightful discussions, knowledge exchange, and collaboration.

The meeting opened with an inspiring address by Project Coordinator Alessandra Ferlini (University of Ferrara) and Project Leader Aldona Zygmunt (Pfizer). Their speeches provided an overview of the project’s progress and future direction, setting a strong foundation for productive discussions ahead. This was followed by a welcome from our host representative, Petra Furu (REVVITY), who introduced her company’s rich history, mission, and dedication to improving the lives of people affected by rare diseases.

We were delighted to feature invited speakers from the consortium in the Innovation in Gene & Genomic Analysis session. Maria Martinez-Fresno (Illumina) captivated the audience with her presentation, “Genomics Unleashed in Rare & Undiagnosed Diseases: Past, Present, and Future.” Samantha Dockrall (Roche) shared her expertise and vision in her presentation entitled “Where Scientific Expertise Meets Exceptional Performance,” and the invited speaker session was concluded with Madhuri Hegde (REVVITY) who led an in-depth analytical session on “Ensuring Newborns Recognize the Benefits of Genomic Medicine.”

Following a delightful Finnish themed lunch, project scientists split into breakout rooms to discuss work package findings and progress in greater depth. These sessions provided a platform for detailed exploration, knowledge exchange, troubleshooting of challenges and the strengthening of collaborations.

As the day came to an end, project partners were treated to a guided tour of REVVITY’s state-of-the-art factory facilities, offering insight into the company’s advanced technologies. The evening concluded with a memorable dinner at a traditional Finnish restaurant along Turku’s Aura River. The consortium participants enjoyed authentic Finnish cuisine while continuing project-related discussions in a relaxed and engaging vintage Finnish atmosphere.

The second day of the meeting focused on assessing the progress of our work packages (WP). Each WP lead and their teams presented their latest advancements, key achievements, and ongoing developments.

The consortium was privileged to welcome our ethical advisor, Eline Bunnik, as well as esteemed members of our Scientific Advisory Board (SAB), including Dr. Annette Grüters and SAB Chairman, Dr. Hanns Lochmüller, who joined us in person. Additionally, Dr. Francesco Muntoni and Dr. David Bick participated virtually. The SAB session after the work package presentations, allowed SAB members to share their extensive expertise in rare disease diagnostics, offering strategic guidance and valuable insights to support the project’s continued success.

During the closing session, Scientific Coordinator Alessandra Ferlini and Project Leader Aldona Zygmunt outlined the key action points and challenges moving forward and expressed their deep appreciation to all participants for their dedication and contributions.

The third in-person meeting was a testament to the power of collaboration and shared commitment in advancing rare disease research. The knowledge exchanged, partnerships strengthened, and insights gained will play a crucial role in driving the project forward as the consortium strive to make a meaningful impact on the lives of those affected by rare diseases.

The Screen4Care consortium eagerly anticipate their next gathering and look forward to the continued progress and success of the project!