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 the balancing act between bedside and laboratory. The Alliance4Rare research network initiated by the Eva Luise and Horst Köhler Foundation provides structured Clinician and Medical Scientist Programs (CS4RARE) to prepare researching paediatricians for this challenging task and to give them the necessary freedom for scientific work at a high level. The programs grant participants protected research periods in which they are released from clinical duties to advance scientific projects on rare diseases.
Dear Dr Brüning, You have been selected for the Junior Clinician Scientist Programme at Alliance4Rare, which is funded by the Eva Luise and Horst Köhler Foundation and the Berliner Sparkassenstiftung für Medizin. What motivated you to pursue a career in both science and clinical practice?
As a junior doctor in the paediatrics department at the Charité university hospital, I encounter children and families every day whose lives are shaped by a rare disease. Many of these patients endure an odyssey lasting years until they are diagnosed, only to find that there are no treatment options available. This motivates me greatly to combine practical clinical work with basic scientific research in order to improve the care of patients with rare diseases.
I have been interested in this intersection since the beginning of my studies in Münster. I participated in the Experimental Medicine programme alongside my studies and wrote an experimental doctoral thesis in nephrology as part of the Medical College.
The Alliance4Rare Junior Clinician Scientist programme now gives me the ideal opportunity to build on this and combine medical care with scientific curiosity, particularly in the field of rare diseases, which affect many of our paediatric patients.
What are you currently working on, and what would you like to achieve in the field of rare diseases?
Since starting my training as a paediatrician, I have worked a few days a month in paediatric nephrology consultations. Around 50–60% of cases of chronic kidney disease in children are caused by monogenetic diseases, i.e. diseases caused by mutations in just one gene. Mutations in up to 600 different genes can lead to chronic kidney disease. Almost all of these diseases are rare. Furthermore, there are no curative treatment options for chronic kidney disease; dialysis and transplantation are the only remaining options.
In my project, I am working on characterising so-called ‘renal delivery’, i.e. targeting certain kidney cell types with viral vectors. I will compare the transduction efficiency of different serotypes of the adeno-associated virus after injection, using various local injection techniques, in a reporter model. I will use immunofluorescence staining, confocal microscopy, and flow cytometric analysis. These investigations should help identify suitable vectors for targeted kidney delivery.
This work forms part of a genome editing project, an innovative therapy option for monogenetic kidney diseases, led by the Klämbt and Kaminski research groups.
How does Alliance4Rare funding open up new opportunities for you in your day-to-day work?
Alliance4Rare funding provides valuable freedom for scientific work which would be difficult to achieve in everyday clinical practice. It enables me to allocate dedicated time for research and develop projects with a long-term perspective. The platform that Alliance4Rare provides for researchers specialising in rare diseases also facilitates valuable interdisciplinary exchange.
Dr Klara Brüning received her doctorate in molecular nephrology from the University of Münster in 2021, completing her medical studies there the following year. In 2023, she commenced clinical training in the Department of Paediatrics, specialising in gastroenterology, nephrology, and metabolic medicine at Charité – Universitätsmedizin. From the outset, she focused particularly on paediatric nephrology. In March 2025, she was accepted onto the Junior Clinician Scientist for Rare Programmes (JCS4Rare), which is funded jointly by the Eva Luise and Horst Köhler Foundation and the Berliner Sparkassenstiftung. As part of the programme, Dr Brüning is working on the characterisation of renal delivery. The aim of renal delivery is to deliver vectors to kidney cells in order to enable the use of innovative therapy options for treating rare monogenetic kidney diseases.
