idw – Informationsdienst Wissenschaft
Nachrichten, Termine, Experten
Nachrichten, Termine, Experten
Seltene Erkrankungen kennen keine Grenzen, stellen uns aber dennoch oft vor Hindernisse. Zersplitterte Datenlandschaften, fehlende Verbindungen zwischen Fachdisziplinen und unklare Versorgungspfade bremsen noch immer den Weg zu Diagnose, Forschung und wirksamer Therapie. Gleichzeitig zeigt sich: Wo Wissen vernetzt, Erfahrungen geteilt und Systeme verbunden werden, entstehen neue Chancen für Menschen mit Seltenen Erkrankungen.
Unter dem Motto „Breaking Boundaries: Uniting People, Knowledge and Systems in Rare Diseases“ lädt das 10. Rare Disease Symposium der Eva Luise und Horst Köhler Stiftung für Menschen mit Seltenen Erkrankungen dazu ein, Brücken auf- und Barrieren abzubauen.
Programm
9.00 Uhr: Welcome Address, Eva Luise Köhler
9.10 Uhr : 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 Uhr: “ Living with POMC Deficiency: A Personal Perspective“, Henrik Voß, POMC Patient
10.10 Uhr: “From Genes to Obesity: Understanding Bodyweight Regulation through Rare Diseases“, Prof. Dr. Peter Kühnen, Charité – Universitätsmedizin Berlin, Germany
10.30 Uhr: “Precision Medicine for Obesity: Research for rare and Benefit for common Diseases“, Prof. Dr. Matthias Tschöp, LMU Munich, Germany
Questions & Discussion
SESSION 2: Collaboration Beyond Borders: Models That Work
11.25 Uhr: “DECIPHER and Beyond: A Global Collaboration Model for Rare Disease Genomics“, Dr. Julia Foreman, EMBL-EBI, UK
11.45 Uhr: “From Orphanet to the World: How Structured Knowledge Enables Global Collaboration“, Dr. Ana Rath, Inserm, France
12.05 Uhr: “ERNs in Action: Turning European Framework into Real-World Collaboration“, Dr. Holm Graessner, University Hospital Tübingen, Germany
Questions & Discussion
Lunch Break
SESSION 3: Digital Bridges: Creating Health Data Spaces for Rare Diseases
13.50 Uhr: “Long-read genome sequencing - the next revolution for rare diseases“, Prof. Dr. Alexander Hoischen, Radboud University Medical Center, The Netherlands
14.10 Uhr: “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 Uhr: “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 Uhr: “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 Uhr: “The Network of University Medicine (NUM): A Data Ecosystem for Rare Diseases“, Ralf Heyder, Charité – Universitätsmedizin Berlin, Germany
Questions & Discussion
16.10 Uhr: CLOSING LECTURE“Mapping Invisible Boundaries: The Ethics of Undiagnosed Lives in Rare Disease Research“, Meghan Halley, PhD, MPH – Stanford University School of Medicine, USA
Discussion & Wrap Up
17.00 Uhr: Farewell
Information on participating / attending:
Die Veranstaltung ist kostenfrei, Veranstaltungssprache ist Englisch. Die Berliner Ärztekammer gewährt 7 CME-Punkte.
Das 10. Rare Disease Symposium findet statt mit freundlicher Unterstützung von:
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, TakedaPharma Vertrieb GmbH & Co KG, UCB Pharma GmbH
Date:
04/17/2026 09:00 - 04/17/2026 17:00
Registration deadline:
04/08/2026
Event venue:
KARL STORZ SE & Co. KG Besucher- und Schulungszentrum Berlin
Scharnhorststraße 3
10115 Berlin
Berlin
Germany
Target group:
Scientists and scholars, all interested persons
Email address:
Relevance:
transregional, national
Subject areas:
Biology, Information technology, Medicine
Types of events:
Conference / symposium / (annual) conference
Entry:
03/06/2026
Sender/author:
Eva Thull
Department:
Presse- und Öffentlichkeitsarbeit
Event is free:
yes
Language of the text:
German
URL of this event: http://idw-online.de/en/event81150
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