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.
Dr. Köhne, you have been selected for the Junior Clinician Scientist Program of the Alliance4Rare, funded by the Eva Luise and Horst Köhler Foundation and the Berliner Sparkassenstiftung Medizin. What motivated you to follow this particular path in science and clinical practice
Dealing with rare disease patients and their families is a common topic, especially in university medical settings. In this setting, we often encounter uncertainties and fears associated with the diagnosis of a poorly understood disease. We need well-funded research in the field of rare to very rare diseases, both to improve therapeutic approaches and to provide meaningful advice to parents.
I find the combination of clinical work and research very appealing and interesting. As a bridge from experimental basic research to patients in terms of a translational approach, I think it is of fundamental importance. With the pace of scientific development today, there are always new insights and opportunities that can lead to improvements in healthcare. We need more clinician-scientist programs like this one to ensure that they are explored and that they reach the people who need them.
What are you currently working on and what would you like to achieve in the field of rare diseases?
I am working on a research project on a very rare neurodegenerative disease called NEDAMSS, which is caused by mutations in the IRF2BPL gene. The disease already shows a wide clinical spectrum ranging from mild developmental disorders to severe neurodegeneration with epileptic encephalopathy with developmental delay, movement disorders, irregular eye movements, and most importantly, loss of speech. Apart from genetics, there are currently no diagnostic options for early detection of the disease. What is particularly distressing for patients and their families is that, once diagnosed, there is no way of knowing when the disease will worsen. Because IRF2BPL-associated diseases are newly discovered and very rare, the molecular mechanisms of pathogenesis and the relationship between the genetic alteration (genotype) and the course of the disease have not yet been explored.
In a combined approach of our clinical and stem cell based research in the group of Dr. Jakob Johannes Metzger and Dr. Pawel Lisowski at the Max Delbrück Center Berlin, we aim to better understand the natural history of the disease on the one hand and to decipher the mechanisms of disease development on the molecular level on the other hand. If we succeed in positively influencing the effects of genetic changes in the laboratory, we need a precise description of the course of the disease for clinical studies. Here we need to define disease features that can be positively influenced by drugs. Through this parallel approach, we hope to gain knowledge faster so that we can help patients as soon as possible.
What opportunities does Alliance4Rare funding open up for you in your day-to-day work that you wouldn’t have otherwise?
The daily clinical work of a physician is demanding and intense. Additional research activities often come at the expense of time for family, friends and relaxation. Alliance4Rare funding can create more time for research and make such projects possible. It’s usually not a lack of motivation, but a lack of time and opportunity that prevents people from doing clinical research. The Alliance4Rare funding has lowered this barrier for me and I am very grateful.
In addition, participating in this funding program gives me the opportunity to exchange ideas with other researchers, which is a great enrichment in terms of experience and knowledge.
Dr. Steffen Köhne was born in Hamburg, Germany, and studied human medicine at the Georg-August-University in Göttingen, Germany. As part of an experimental doctoral thesis at the Department of Cardiology in Göttingen, he conducted research on stem cell-derived cardiomyocytes and cardiac fibroblasts. Dr. Köhne is expected to complete his residency in pediatrics and adolescent medicine at the University Medical Center Göttingen in late 2024 and will then begin his residency in pediatric gastroenterology.
