Mapping Invisible Boundaries: The Ethics of Undiagnosed Lives in Rare Disease Research
At the core of her lecture was the question of how well current structures in research and care address the unique life situations of patients with rare diseases. She emphasized that traditional boundaries between research and clinical care often do not apply here, as diagnostics and research are inseparably linked in many cases.
Drawing on personal accounts, Halley illustrated how hope, expectations, and uncertainty powerfully shape the diagnostic journey. Participation in studies is often accompanied by great hope for a diagnosis or even a cure. However, these expectations cannot always be met and can come with significant emotional burdens for those affected. At the same time, it became clear that existing safeguards are not always a perfect fit. While risks are meant to be limited, this can sometimes mean that valuable findings become accessible to patients too late or not at all. This creates a tension between necessary protections and access to potential benefits.
Meghan’s contribution made it clear that innovative approaches are needed—ones that better connect research and care, consistently include the perspectives of those affected, and adapt ethical frameworks to the realities of rare diseases. In closing, the event highlighted the importance of rethinking existing boundaries not only technically, but also ethically.
Insights into each session of the 10th Rare Disease Symposium can be found here:
Keynote: From Silos to Systems: A Vision for the Future of Rare Disease Medicine
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
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.
