Many rare diseases are caused by point mutations. These tiny changes in the genetic code may have far-reaching consequences. This is where the project coordinated by Dr. Arcangela Iuso comes in: The aim is to use RNA base editing to specifically correct disease-causing errors at the messenger RNA level before a harmful protein is made.
A specially developed RNA editing complex modifies individual RNA components so that the cellular blueprint can once again be read correctly, without permanently altering the genome. Beta-propeller protein-associated neurodegeneration (BPAN), a rare, early-onset neurodegenerative disorder, is being used as a model disease. The research team investigates whether characteristic disease changes in patient-derived cells from skin biopsies can be measurably influenced at the cellular level by RNA editing.
A perspective beyond an individual disorder
The project combines molecular basic research with a translational perspective. If this approach proves successful, it could serve as a platform concept that may benefit further rare diseases with similar genetic alterations.
The research is conducted in close collaboration with international partners from molecular biology, bioinformatics, and clinical research. Cooperation with the patient organization Hoffnungsbaum e. V. ensures that the perspectives of affected families are considered.
The Eva Luise Köhler Research Award, endowed with 50,000 euros, has been awarded since 2008 in cooperation with the Alliance for Chronic Rare Diseases ACHSE e.V. and is considered one of the most renowned awards in the field of rare disease research. It honors projects that combine scientific innovation with a clear perspective for people affected. The festive award ceremony will take place on April 17, 2026, at the Berlin-Brandenburg Academy of Sciences.
Dr. Arcangela Iuso is a researcher at Helmholtz Munich and the Technical University of Munich (TUM). She works in the field of molecular therapy strategies for rare neurodegenerative diseases. After studying biology, she specialized early on in mitochondrial and genetically determined disorders and worked in various international research networks. Her work bridges fundamental molecular biology research with translational approaches aimed at clinical application. A particular focus of her research lies in precise RNA-based techniques to correct genetic mutations. (Photo: Helmholtz Munich | © Michael Haggenmueller)
