Rare diseases know no boundaries, yet often confront us with barriers. Fragmented data landscapes, missing links across medical disciplines, and unclear care pathways still slow the path to diagnosis, research, and effective therapies. However, we see that when knowledge is connected, experiences are shared, and systems unite, new opportunities arise for people with rare diseases.
Under the theme “Breaking Boundaries: Uniting People, Knowledge and Systems in Rare Diseases”, the 10th Rare Disease Symposium of the Eva Luise and Horst Köhler Foundation for People with Rare Diseases invites you to build bridges and dismantle obstacles. International experts will showcase how integrated data spaces, interdisciplinary collaboration, and precision medicine approaches are making real innovation possible—and how, together, we can create structures that lead to better long-term treatments.
Find all sessions, presentations, and key topics in the program overview of the symposium. Registration opens soon. If you wish to stay updated, feel free to subscribe to our newsletter.
We look forward to inspiring conversations and to developing new perspectives for a connected future in the field of rare diseases together.
| Time | Title | Speaker |
|---|---|---|
| 9.00 | Welcome Address | Eva Luise Köhler, Eva Luise and Horst Köhler Foundation for People with Rare Diseases, Germany |
| 09.10 | Keynote“From Silos to Systems: A Vision for the Future of Rare Disease Medicine” | Sharon F. Terry, President & CEO, Genetic Alliance, USA |
| SESSION 1 Case Study: Rare Obesity | ||
| 10.00 | “Living with POMC Deficiency: A Personal Perspective“ | Hendrik Voß, POMC patient, Germany |
| 10.10 | “From Genes to Obesity: Understanding Bodyweight Regulation through Rare Diseases“ | Prof. Dr. Peter Kühnen, Charité – Universitätsmedizin Berlin, Germany |
| 10.30 | “Precision Medicine for Obesity: Research for rare and Benefit for common Diseases“ | Prof. Dr. Matthias Tschöp, LMU Munich, Germany |
| 10.50 | Questions and Discussion | |
| 11.00 | Coffee Break | |
| SESSION 2: Collaboration Beyond Borders: Models That Work | ||
| 11.25 | “DECIPHER and Beyond: A Global Collaboration Model for Rare Disease Genomics“ | Dr. Julia Foreman, EMBL-EBI, UK |
| 11.45 | “From Orphanet to the World: How Structured Knowledge Enables Global Collaboration“ | Dr. Ana Rath, Inserm, France |
| 12.05 | “ERNs in Action: Turning European Framework into Real-World Collaboration“ | Dr. Holm Graessner, University Hospital Tübingen, Germany |
| 12.25 | Questions & Discussion | |
| 12.35 | Lunch Break | |
| SESSION 3: Digital Bridges: Creating Health Data Spaces for Rare Diseases | ||
| 13.50 | “Long-read genome sequencing - the next revolution for rare diseases“ | Prof. Dr. Alexander Hoischen, Radboud University Medical Center, The Netherlands |
| 14.10 | “Connecting the Dots: Integrating Natural History, Patient Voices, and Digital Data for Rare Diseases“ | Agnès Linglart, MD, PhD, Paris-Saclay University, Hôpital Bicêtre – AP-HP, France |
| 14.30 | “Clinical and Research Frontiers in Rare Disease Genomics: Insights from the GREGoR Consortium and Beyond“ | Monica Wojcik, MD, MPH, Boston Children’s Hospital / Harvard Medical School, USA |
| 14.50 | “Standards, Metadata and Interoperability: Making EHDS Work for Rare Disease Data“ | Prof. Dipak Kalra, European Institute for Innovation through Health Data (i~HD), Belgium & University College London (UCL), UK |
| 15.10 | “The Network of University Medicine (NUM): A Data Ecosystem for Rare Diseases“ | Ralf Heyder, Charité – Universitätsmedizin Berlin, Germany |
| 15.30 | Questions & Discussion | |
| 15.40 | Coffee Break | |
| 16.10 | CLOSING LECTURE“Mapping Invisible Boundaries: The Ethics of Undiagnosed Lives in Rare Disease Research“ | Meghan Halley, PhD, MPH – Stanford University School of Medicine, USA |
| 16.40 | Discussion & Wrap Up | |
| 17.00 | Farewell |
