Under the theme “Expanding Structures & Securing Care – Acting Together for People with Rare Diseases”, representatives from politics, research, advocacy groups, and industry gathered at the German Parliamentary Society. The goal was to discuss central, practice-oriented approaches for future-proof care of people with rare diseases.
The focus was on embedding the National Action Plan for People with Rare Diseases (NAMSE), stable funding and further development of the Centers for Rare Diseases (ZSE), as well as expanding digital infrastructures, such as a nationwide register. Discussions also covered ways to systematically promote sustainable research and innovation, improve healthcare transitions, and further strengthen collaboration among advocacy groups, medicine, industry, and policy makers.
“What works for a few today, could help many tomorrow”
The session was opened by Tobias Hagedorn (DIG PKU e. V.), who shared moving insights from the perspective of those affected and described life with a rare metabolic disorder. He highlighted the significant burden that uncertainty and lack of care paths place on people with rare diseases and their families.
Next, Prof. Dr. Annette Grüters-Kieslich delivered key impulses on current challenges. The chair of our foundation’s board emphasized that high-quality care is only possible when research findings are swiftly translated into practice and care data simultaneously strengthen research. Rare diseases are not a niche issue, but rather a precedent for precision medicine. “What we learn in the field of rare diseases often paves the way for more common conditions.” She pointed to major progress in recent years, such as the Innovations Fund project TRANSLATE-NAMSE, the establishment of Centers for Rare Diseases at university hospitals, and the genomDE pilot project. These achievements must be secured and continued.
Targeted action is also required to address structural deficits. Despite clear recommendations by the Federal Joint Committee, funding and the sustained embedding of the centers are still not guaranteed. “We don’t have a knowledge problem; we have an implementation problem,” said Grüters-Kieslich. Her appeal: Strengthen the structural foundations now so that the immense medical progress truly reaches those affected. Medicine is entering a new era, one that could enable many people to live healthier lives—a chance that must not be missed. “Because what works for a few today, could help many tomorrow.”
Jannes Moritz from Ipsen Pharma offered another perspective: He emphasized that developing therapies for rare diseases entails significant scientific and economic risk. Whether innovations reach those affected largely depends on reliable political frameworks. The orphan drug status within AMNOG has become a crucial driver of therapeutic progress, enabling investment in small patient groups and ensuring that new medicines quickly reach the German market. This success story must continue so that more people benefit from medical innovation, Moritz stated.
The following discussion made clear how vital coordinated action and political commitment are—both in funding and legislation. Only by doing so can we avoid care for people with rare diseases being left to chance and the commitment of a few.
Shared Responsibility and Political Support
“We still have much ahead of us, and we will take responsibility together,” summarized Stefan Schwartze, the Federal Government’s Commissioner for Patients’ Affairs. With over four million affected in Germany, as well as their friends and families, he made it clear: Rare diseases are not a niche issue, but a challenge for society and politics as a whole.
Nora Seitz, rapporteur on rare diseases for the CDU/CSU parliamentary group, also stressed the need for joint efforts to secure sustainable research and care: “Parliamentary work thrives on exchange. We are grateful for practical feedback, showing where we can and must improve.”
The fact that both MPs took on the patronage of the event is an important signal of solidarity and a strong basis for turning the results of the discussion into concrete progress.
Outlook
Our foundation will continue to advance the many ideas gathered and develop them further in partnership with policymakers, scientists, and industry representatives. Our focus is sustaining successful measures, ensuring long-term financing for care centers, and better networking research, care, and digital infrastructures.
Key tasks in the coming years will include building a reliable national data foundation through new registry legislation and integrating rare diseases into the NUM4Rare network. Another important area is developing specialized therapy hubs to systematically link basic research, clinical studies, and industry partnerships. Only then can Germany fully leverage the opportunities of genomic medicine and new therapies for those affected. Throughout, it remains critical to consistently include the perspectives and expertise of families and advocacy organizations. Sustainable change only arises through close alliance among all stakeholders.
We thank our guests for their lively exchange and look forward to continuing this path together. Because we are far from our goal.
