PLEASE NOTE: Due to high demand, the symposium is currently fully booked. We kindly ask for your understanding that new registrations cannot be confirmed at this time. If you would like to be placed on the waiting list, please contact us at events@elhks.de. Thank you very much!
Rare diseases know no boundaries, yet they often confront us with significant obstacles. Fragmented data landscapes, insufficient connections between disciplines, and unclear care pathways continue to slow progress toward diagnosis, research, and effective therapies. At the same time, it is evident that when knowledge is connected, experiences are shared, and systems are aligned, new opportunities emerge for people living with rare diseases. Under the motto “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 participants to build bridges and break down barriers.
We look forward to an inspiring exchange and to jointly developing perspectives for a more connected future in the field of rare diseases. The program flyer provides an overview of all sessions, lectures, and key topics of the symposium. The event is free of charge. The event is free of charge; the event language is English. The Berlin Medical Association awards 7 CME credits.
Following the successful premiere last year, we are once again delighted to invite you to an informal Welcome Evening on the day prior to the symposium, Thursday, 16 April 2026, starting at 6:00 p.m., offering an opportunity for initial encounters and relaxed exchange. Please note that due to high demand, all available places are currently fully booked. You are welcome to join the waiting list via the registration form. We will inform you promptly should a place become available.
| 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“ | Ronja Schlapbach, 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 | “Advances in Anti-Obesity Pharmacotherapy“ | Dr. Daniela Liśkiewicz, Helmholtz 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“ | Prof. Dr. Corinna Grasemann, UM Mainz, 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 |
The 10th Rare Disease Symposium is held with the kind support of:
Alexion Pharma Germany GmbH, Chiesi GmbH, Ipsen Pharma GmbH, Karl Storz SE & Co. KG, Pharming Group, Pfizer Pharma GmbH, PTC Therapeutics Germany GmbH, Roche Pharma AG, Sanofi-Aventis Deutschland GmbH, Takeda Pharma Vertrieb GmbH & Co. KG, UCB Pharma GmbH
