What Are We Waiting For?

We need a plan for what takes research priority now

“I still think a lot about patients I met 20 years ago or even before—and for whom there is still no diagnosis,” says Prof. Dr. Annette Grüters-Kieslich. The pediatrician likes to see things through: “I’m eager to re-examine these cases. After all, today we have methods we didn’t have back then.”

The Chairwoman of the Eva Luise and Horst Köhler Foundation for People with Rare Diseases is what you might call a “conviction-driven doer”: Even as a student at the FU Berlin, she ensured that from then on all newborns in Berlin received hypothyroidism screening. Before this systematic screening, congenital thyroid dysfunction usually went undetected for months after birth. By then, the nervous system and development of affected children was already irreversibly damaged, as Annette Grüters-Kieslich explains: “Children used to be mentally handicapped. Today, they get the missing thyroid hormone right after birth—and grow up to be doctors, librarians, engineers.”

This experience undoubtedly shaped her, summarizes the professor of pediatric endocrinology, for whom moving between lab and bedside was always second nature. Like a detective—persistent, thinking outside the box, and inching closer to the cause of illness step by step—she embodied the role of a “clinician scientist,” even before establishing the nation’s very first funding program for clinician-researchers as Dean at Charité. Annette Grüters-Kieslich is convinced that scientifically ambitious doctors need protected research time in the highly compressed routine of hospital life: “As a physician, I invested a lot of my free time in research—maybe that’s my way of showing solidarity with those who can easily fall through the cracks in our healthcare system.”

For over ten years, alongside numerous other voluntary roles, she has served as Chairwoman of the Eva Luise and Horst Köhler Foundation, where she forges a broad societal alliance for those with “rare” conditions through the Alliance4Rare initiative. She knows “it takes many shoulders and a clear plan to make sure the chances and possibilities of modern medicine reach those who need them most.” The lack of specific therapies for rare diseases is, in her view, due to a lack of strategies, incentives, and sustainable structures for interdisciplinary collaboration—a situation she finds “almost unbearable” considering the potential of new therapies. Like many of her colleagues, Annette Grüters-Kieslich sees the increasing number of targeted therapies based on fundamental research findings as a historic opportunity for tackling previously incurable diseases. “Common diseases” stand to benefit as well, since they often consist of many rare diseases with specific causes.

Since the founding of the National Action Alliance for People with Rare Diseases NAMSE, progress has been made, such as the expansion and certification of rare disease centers, innovative care research projects like TRANSLATE-NAMSE, and the forthcoming mandatory use of Alpha ID-SE coding. These steps encourage Annette Grüters-Kieslich and drive her to continue: “If I know there is even more improvement to be made for patients with new methods and technologies, how could I say I’m no longer responsible? I have to keep trying to help!”