For people with rare diseases, the path to a diagnosis and proper care is often lengthy and challenging. In her conversation with Holger Bleß, Annette Grüters-Kieslich highlights why more is needed than just individual projects and initiatives: Reliable structures are crucial—they provide guidance for those affected, promote young scientific talent, and better connect research, care, policy, and self-help networks.
“Rare diseases need alliances of people who want to dedicate themselves to this topic,” she firmly believes. This idea runs like a common thread through the conversation. Professor Grüters-Kieslich talks about the foundation’s origins and aims, the development of centers for rare diseases, patient registries and newborn screening, as well as how scientific findings can reach patients more quickly. She also points out the opportunities that rare disease research brings to the medical field as a whole. At the same time, the renowned pediatrician advocates for greater attention to the unique challenges faced by small patient groups. While scientific evidence is indispensable, she stresses that tailored approaches are needed—ones that address the specifics of very rare diseases without unnecessarily delaying access to innovation.
Looking to the future, Annette Grüters-Kieslich wishes above all for more cooperation and less silo thinking. A conversation about today’s challenges and tomorrow’s opportunities.
The podcast series Diagnose-Kompass: Rare Diseases sheds light on recent developments in research, care, and health policy related to rare diseases. It features experts from medicine, science, self-help, and other fields.
