Endowed with €50.000, the award is among the most prestigious distinctions in the field of rare disease research and has been presented since 2008 in cooperation with the Alliance of Chronic Rare Diseases (ACHSE) e. V. The official award ceremony will take place on 17 April 2026 at the Berlin-Brandenburg Academy of Sciences and Humanities.
Correcting Errors in Real-Time
Many rare diseases are caused by point mutations – minimal changes in the genome with serious consequences. The project coordinated by Arcangela Iuso addresses precisely this challenge: using RNA base editing, errors in messenger RNA (mRNA) are to be corrected in a targeted manner before a disease-causing protein is produced.
A specialized RNA editing complex converts individual RNA building blocks so that the cellular blueprint can be read correctly again – without permanently altering the genome. The model disease is BPAN (Beta-Propeller Protein-Associated Neurodegeneration), a severe, early-onset neurodegenerative disorder. Using patient-derived cells from skin biopsies, the team is investigating whether disease-specific cellular changes can be measurably influenced using of RNA editing.
“Dr. Iuso’s project is technologically highly innovative while consistently focused on benefits for affected individuals. If the approach proves successful, it could lead to a platform concept that may be transferable to other rare diseases with comparable genetic alterations,” says Prof. Dr. Annette Grüters-Kieslich, Chair of the Board of the Eva Luise und Horst Köhler Stiftung.
The project is being implemented in close collaboration with international partners in molecular biology, bioinformatics, and clinical research. Cooperation with the patient organization Hoffnungsbaum e. V. ensures that the research is closely aligned with the needs of affected families.
About the Award Recipient
Arcangela Iuso is a scientist at Helmholtz Munich and the Technical University of Munich and works on molecular therapeutic strategies for rare neurodegenerative diseases. After studying biology, she specialized early in mitochondrial and genetic disorders and has been involved in various international research consortia. Her work combines molecular biological basic research with translational approaches aimed at clinical application. A particular focus of her research lies in precise RNA-based technologies to correct genetic alterations.
Rare Disease Day: Raising Awareness for Rare Diseases
Rare Disease Day is the Global Day of Action for people with rare diseases and has been held annually on the last day of February since 2008. Worldwide, an estimated 300 million people live with a rare disease. Many wait a long time for a diagnosis or have limited access to specialized therapies. The aim of the day of action is to raise awareness and initiate improvements – from earlier diagnosis and targeted research funding to needs-based care.
About the Eva Luise und Horst Köhler Stiftung
The Eva Luise und Horst Köhler Stiftung for People with Rare Diseases was founded in 2006 and is committed to promoting research and fostering collaboration in this field. With the Alliance4Rare initiative, the foundation launched a care and research network for rare diseases in childhood and adolescence in 2022.
