Rare diseases affect children and adolescents in eight out of ten cases. Their participation in medical progress therefore depends crucially on dedicated pediatricians who master the balancing act between bedside care and laboratory work with great commitment. To prepare pediatric researchers for this demanding task and give them the necessary freedom for high-level scientific work, the research network Alliance4Rare, initiated by the Eva Luise and Horst Köhler Foundation, relies among other things on structured Clinician Scientist Programs (CS4RARE). These programs offer participants protected research time during which they are exempted from clinical duties to advance scientific projects in the field of rare diseases.
Dr. Bjelde, you have been selected for the Junior Clinician Scientist Program of Alliance4Rare. What motivated you to embark on this special path between science and clinical practice?
As a physician, I have developed a particular interest in rare diseases. Much remains unresearched, and in daily clinical practice, I see how important a better understanding of these diseases is for diagnostics and therapy. Having a comprehensive perspective, both directly with patients in the clinic and in the lab working with data and cells, is especially helpful here, since we cannot rely on already established, large databases.
I have been working scientifically for several years already, since I originally studied mathematics, earned a doctorate in that field, and only then completed a second degree in medicine. During my medical studies, I also participated in projects where I could combine both my mathematical/informatics background and my medical knowledge, so it was clear that I wanted to continue scientific work. At the same time, I really enjoy clinical work, so I am very glad to have been selected for the Junior Clinician Scientist Program, enabling me to combine both.
What are you currently working on, and what do you want to achieve in the field of rare diseases?
My research focus is on interferonopathies. This is a group of rare diseases in which, due to genetic factors for example, the immune system produces more interferons or reacts more sensitively to them. Interferons play an important role in infection defense, but overactivity can lead to severe inflammatory processes throughout the body and thus a wide range of symptoms, such as skin lesions and neurological symptoms.
Our goal is to better understand the pathomechanisms of these diseases, as well as why sometimes similar or even identical mutations can result in very different clinical presentations. To this end, I analyze single-cell RNA sequencing data from patients’ blood cells. With the insights gained, we hope to lay the foundation for faster diagnostics, better disease monitoring, and especially for individually tailored therapy options.
What opportunities does the support from Alliance4Rare open up for you in your daily work that you would not have without this support?
On the one hand, the protected research time I am provided with is extremely valuable. High-quality research is hardly possible if it can only be done “in your free time.” This is especially true as methods are developing rapidly. Without clearly defined time for research, it is nearly impossible to stay up-to-date, let alone make new discoveries yourself.
On the other hand, I find the networking opportunities offered by Alliance4Rare extremely enriching — both with other (Junior) Clinician Scientists and through meetings with established researchers. Getting input from outside one’s own institute or specific research area, and perhaps gaining entirely new and interdisciplinary ideas, is very important to me.
Dr. Antje Bjelde studied mathematics in Ulm, Newcastle (Australia), Paris, and Berlin. She later received her doctorate at TU Berlin in Discrete Optimization and Algorithmic Game Theory. From the winter semester 2017/2018, she began a second degree in medicine at Charité – Universitätsmedizin Berlin and, during this time, worked on the mathematical description and analysis of patch-clamp data from neuronal networks. After graduating, she has been working since March 2025 as a physician in pediatric and adolescent medicine (with a focus on pulmonology, immunology, and intensive care) at the Charité – Universitätsmedizin Berlin. Her clinical and research focus is pediatric rheumatology; her research is conducted in cooperation with the German Rheumatism Research Center Berlin.
