
Congratulations to Dr. rer. nat. Julia Grüner from the working group of Prof. Dr. Nurcan Üçeyler, Senior Consultant in Neurology at the University Hospital of Würzburg. She received the award for pain research at the German Pain Congress in Mannheim on October 17, 2024. Her work “Small fiber neuropathy in Fabry disease: a human-derived neuronal in vitro disease mod-el and pilot data” was awarded second place in the “Clinical Research” category. The sponsor of the prize, Grünenthal GmbH, has awarded two second places this year, meaning that Julia Grüner shares the prize money of 3,500 euros.
Her project is about the rare hereditary disease Fabry's disease, which develops gradually and significantly affects the lives of those affected. In Fabry disease, genetic defects prevent the enzyme alpha-galactosidase A from working properly. As a result, fatty compounds, so-called sphingolipids, accumulate in the cells, including in nerve cells, but also in organs such as the heart and kidneys. The first symptoms, such as burning pain in the hands and feet, often occur in childhood. Over time, the perception of temperature also deteriorates.
The award-winning work was the first time that Fabry patients' skin cells were used to generate stem cells that can be converted into nerve cells. In the Petri dish, the team was able to observe how the fat deposits affect the nerve cells. These changes could disrupt the energy balance of the cells and thus cause the pain typical of Fabry. One particularly interesting discovery was that nerve cell activity is altered at elevated temperatures. This could explain why those affected often have more severe pain and a disturbed perception of temperature, particularly when they have a fever. These discoveries open up new approaches to better understand the mechanisms of the disease and to be able to treat it more specifically in future.
