Living with POMC Deficiency: A Personal Perspective
The session began with a very personal insight: Ronja Schlapbach provided an impressive and moving glimpse into her life with POMC deficiency, a rare genetic disease that leads, among other things, to a disturbed sense of satiety and a constant feeling of hunger.
She illustrated both touchingly and vividly what it means to live with this permanent hunger: a daily effort that goes far beyond medical aspects. She described the impact on everyday life and family as well as the psychological burdens she faced for many years—ranging from being overwhelmed and socially excluded, to the feeling of not being understood. With the start of a pharmacological therapy, she felt as though a “second life” had begun. At the same time, Ronja made it clear how her experiences over the years have left an impression and continue to shape her everyday life.
Thank you for your brave contribution, dear Ronja! It impressively emphasized how essential patients’ own perspectives are for a comprehensive understanding.
From Genes to Obesity: Understanding Bodyweight Regulation through Rare Diseases
Next, Prof. Dr. Peter Kühnen, Director of the Clinic for Pediatric Endocrinology at Charité – Universitätsmedizin Berlin, placed the personal experiences described before into a scientific context.
Using rare genetic forms of obesity, he showed how disruptions in the leptin-melanocortin signaling pathway result in missing satiety and permanent hunger. It became evident that rare diseases like POMC deficiency are key to understanding fundamental biological mechanisms of weight regulation. Insights from these rare cases have been instrumental in developing targeted therapies. The first pharmacological treatments now address this pathway directly.
His conclusion: Even though monogenic forms of obesity are rare, they provide crucial insights for more common types and open new perspectives for individualized therapies.
Advances in Anti-Obesity Pharmacotherapy
Dr. Daniela Liśkiewicz, Group Leader, Division Molecular Pharmacology, Helmholtz Munich, continued on this topic. She provided an overview of recent developments in pharmacological obesity therapy and introduced new active substances that specifically target the hormonal regulation of hunger and satiety and are increasingly used in clinical care.
It became clear that our understanding of obesity has fundamentally changed in recent years. Rather than treating it solely as a lifestyle issue, it is now increasingly seen as a biologically regulated disease that can be treated specifically. This reevaluation is also reflected in the growing number of innovative therapeutic approaches.
The lecture referenced the mechanisms described earlier and showed how findings from research into rare diseases have contributed to the development of modern therapy options that are now also benefiting patients with more common forms of obesity.
You can find more insights on individual sessions of the 10th Rare Disease Symposium here:
Keynote: From Silos to Systems: A Vision for the Future of Rare Disease Medicine
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
Photos: Andrea Katheder
We would like to express our heartfelt thanks to 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.
