At the opening of the symposium, Eva Luise Köhler, Chair of the Foundation Board, and Prof. Dr. Annette Grüters-Kieslich, Chairwoman of the Eva Luise and Horst Köhler Foundation, welcomed the participants.
They emphasized that rare diseases, especially in times of social upheaval, require special attention. Given the growing risk that “patients with rare diseases might easily fall out of the focus of our society”, it is all the more important to overcome existing boundaries in research and care, and to strengthen collaboration across disciplines and institutions.
The keynote was delivered by Sharon F. Terry, President and CEO of Genetic Alliance and one of the leading voices in the international rare disease community. Due to technical difficulties, her flight had to return at short notice, so she greeted the Berlin audience from California at midnight local time.
Drawing from her personal history as a mother of two children with a rare disease, she showed how much the field has changed. Whereas in the past a lack of knowledge was central, the main challenge today is the lack of linkage between existing insights. Data, research, and clinical expertise often exist side by side, but are not systematically connected.
She described rare diseases above all as a systems problem. As a consequence, patients still often have to act as connectors themselves. “The problem is no longer a lack of knowledge – it is a failure of connection”, was one of the key statements of her talk.
Sharon outlined a counter-model with a consistently patient-centered approach. Those affected should no longer just be engaged but recognized as equal partners. She summed this up memorably: “We are tired of being engaged. We want to be married!”—a call for true partnership instead of mere involvement. Through initiatives such as Genetic Alliance and the iHope Program, she showed how such models are already being implemented. Digital infrastructures empower patients to manage their own health data and use it specifically for research and care. This shifts control from the system to the people themselves: “Participants are not invited to the table – they build the table.”
Her core message: The necessary tools and concepts already exist. The essential step now is to connect them consistently and advance them together.
How this can happen, what instruments we should use, and which challenges must be faced was discussed afterwards in three thematic sessions with leading international experts, patients, and partners from care, research, and policy.
Session 1: Case Study: Rare Obesity
Session 2: Collaboration Beyond Borders: Models That Work
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
Summary and Outlook
The 10th Rare Disease Symposium made it abundantly clear how closely progress in rare disease care is tied to the interplay of scientific innovation, data integration, international cooperation, and consistently including the perspectives of patients.
At the same time, it became evident how much commitment, expertise, and personal dedication comes together in this field. The “Rare Disease Community” is a vibrant and highly motivated network.
This special dynamic shaped not only the content, which highlighted current developments and set new impulses for research, care, and policy, but also the atmosphere of the whole event: The open, engaged dialogue contributed to numerous valuable contacts being established—even beyond the official program—from which promising collaborations and initiatives may arise.
Our heartfelt thanks go to all speakers and participants who contributed their perspectives, experiences, and great commitment to the success of the symposium. Cross-disciplinary and cross-border collaboration is central to real progress.
With this shared understanding and renewed motivation, we look ahead with the goal of step by step improving the lives of people with rare diseases.
We look forward to the next Rare Disease Symposium on April 23, 2027!
Impressions from the 10th Rare Disease Symposium on April 17, 2026
Photos: Andrea Katheder
We extend our heartfelt thanks for the support from our partners 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.
