DECIPHER and Beyond: A Global Collaboration Model for Rare Disease Genomics
The session was opened by Julia Foreman, DECIPHER Project Leader at the European Molecular Biology Laboratory – European Bioinformatics Institute (EMBL-EBI). She demonstrated how international data sharing is crucial for diagnosing rare diseases.
At the center of her talk was the DECIPHER platform, which brings together clinical and genetic data from centers worldwide. The starting point is a key problem: data often remain isolated within individual institutions. “Their data is siloed – and for rare disease that is not useful. We need to data share.”
DECIPHER enables the structured and secure combination of this data, linking diagnostically relevant variants with phenotypic information. This allows not only worldwide identification of similar cases, but also faster diagnoses and the discovery of new genetic relationships.
Foreman also emphasized that data sharing is always a balancing act. It is important to have a tiered system that both enables scientific progress and protects patient privacy. The extent of data use is deliberately managed and adapted to the requirements of each individual case.
From Orphanet to the World: How Structured Knowledge Enables Global Collaboration
Next, Ana Rath, Director of Orphanet at the French research institute INSERM, showed how structured knowledge systems enable international collaboration in the rare disease field. Her talk began by highlighting a fundamental shift: instead of a lack of knowledge, there is now an abundance of data. The challenge lies in structuring this knowledge and making it usable.
With Orphanet, a globally connected reference database and infrastructure has been created to systematically collect, curate, and transform medical information into a unified classification. The so-called ORPHAcodes create a common language and make rare diseases visible in research, care, and health systems. Rath emphasized that this visibility is crucial: only through standardized and coded data can patients be identified, research enabled, and informed decisions made. They are also the basis for comparing and utilizing data across borders. It’s clear that technical prerequisites mostly exist, while the biggest challenges are organizational, legal frameworks, and real-world data accessibility and use.
ERNs in Action: Turning European Frameworks into Real-World Collaboration
The final talk in the session was given by Prof. Dr. Corinna Grasemann, Director of the Department of Pediatrics and Adolescent Medicine at University Medical Center Mainz, offering practical insight into the work of the European Reference Networks (ERNs).
Using a case study, she demonstrated the complexity of caring for patients with rare diseases and how many disciplines are involved. Care often requires close coordination among numerous specialized experts across different institutions. This is where ERNs come in. As pan-European virtual networks, they connect specialized centers and enable structured exchange of expertise.
A core tool is the Clinical Patient Management System, which allows cross-border case discussions. This means experts can make joint therapy decisions and offer well-founded assessments, even for rare and complex questions.
Guidelines and registries also help to consolidate knowledge and improve care in the long run. The presentation made clear how European structures function in daily clinical practice.
The contributions in this session demonstrated that advances in rare disease care depend largely on networked knowledge, structured use of data, and international collaboration. Without these, possibilities remain limited.
Find insights into each session of the 10th Rare Disease Symposium here:
Keynote: From Silos to Systems: A Vision for the Future of Rare Disease Medicine
Session 1: Case Study Rare Obesity
Session 3: Digital Bridges: Creating Health Data Spaces for Rare Diseases
Closing Lecture: Mapping Invisible Boundaries: The Ethics of Undiagnosed Lives in Rare Disease Research
Photos: Andrea Katheder
We sincerely thank our partners for their support: KARL STORZ, Pfizer Pharma GmbH, Takeda Pharma Vertrieb GmbH & Co KG, Sanofi-Aventis Deutschland GmbH, Alexion Pharma Germany GmbH, Chiesi GmbH, Ipsen Pharma GmbH, UCB Pharma GmbH, PTC Therapeutics Germany GmbH, and Roche Pharma.
