Rare diseases affect children and adolescents in eight out of ten cases. Their participation in medical progress therefore depends crucially on dedicated pediatricians who are committed to balancing the demands of patient care and scientific research. To prepare physician-scientists in pediatrics for this challenging role and provide them with the protected time and freedom required for high-level scientific work, the Alliance4Rare research network—initiated by the Eva Luise and Horst Köhler Foundation—supports structured Clinician Scientist Programs (CS4RARE). These programs provide participants with protected research time, allowing them to step away from clinical duties and advance scientific projects focused on rare diseases.
What motivated you to pursue this unique path between science and clinical practice?
My desire to combine clinical work with scientific research first emerged during my doctoral studies in basic cardiovascular research. This motivated me to begin my specialist training in pediatrics at a university medical center. As a resident physician in pediatric endocrinology at Charité – Universitätsmedizin Berlin, I regularly encounter patients with rare diseases and witness the challenges faced by affected children and their families in my daily clinical practice.
One particular case involving a child with congenital hyperinsulinism had a lasting impact on me. Congenital hyperinsulinism (CHI) is a rare inherited disorder of insulin secretion that causes severe hypoglycemia. The limited treatment options and the considerable burden placed on affected families reinforced my conviction that I wanted to contribute not only through clinical care but also through research. My goal is to advance our understanding of the disease and, ultimately, help develop improved treatment options.
I find the combination of clinical practice and research especially motivating because it creates a direct connection between scientific questions and their clinical relevance, allowing research findings to have a tangible impact on patient care.
What are you currently working on, and what do you hope to achieve in the field of rare diseases?
In my current research project, I investigate the molecular mechanisms underlying congenital hyperinsulinism (CHI). Using single-nucleus RNA sequencing (snRNA-seq), I analyze pancreatic tissue from affected patients to identify potential molecular targets that could serve as the basis for the development of new therapeutic approaches.
At present, only a limited number of drug classes are available for patients with diffuse CHI, a form of the disease that cannot be cured through surgery. Existing medications often fail to achieve adequate stabilization of blood glucose levels. In some cases, near-total removal of the pancreas remains the only treatment option.
My long-term goal is to significantly improve treatment options for affected children. In particular, I hope to contribute to the development of therapies that can prevent invasive procedures such as pancreatic surgery in patients with diffuse CHI. Ultimately, I would like to help ensure that these children can live without the constant threat of severe hypoglycemia and its potentially serious consequences.
What opportunities does the Alliance4Rare funding provide in your day-to-day work that would not be possible without this support?
The protected research time provided through the Alliance4Rare funding enables me to combine my clinical responsibilities with scientific research in a meaningful and sustainable way. In particular, it ensures the continuity required for my research project, something that would be difficult to achieve within the demands of routine clinical work alone.
In addition, the program offers a structured platform for interdisciplinary exchange with other researchers working in the field of rare diseases. It also provides valuable input through training opportunities and mentorship from experienced scientists.
Overall, the funding creates essential conditions for effectively integrating clinical practice and research. In the long term, it allows me to contribute more meaningfully to improving the care and treatment of patients living with rare diseases.
Dr. Laurina Bühner studied Human Medicine at Charité – Universitätsmedizin Berlin and the Université de Bordeaux. After completing her medical degree and earning her doctorate in cardiology in 2022, she began her specialist training in Pediatrics and Adolescent Medicine in 2023 at the Department of Pediatric Endocrinology and Diabetology at Charité.
During her clinical training, she developed a particular interest in congenital hyperinsulinism (CHI), a rare inherited disorder of insulin secretion. Since then, she has been actively involved both in the clinical care of affected patients and in research aimed at understanding the underlying disease mechanisms.
Photo: private collection
