In a festive ceremony on June 20, 2025, Eva Luise Köhler presented the 17th Eva Luise Köhler Research Award for Rare Diseases at the Berlin-Brandenburg Academy of Sciences and Humanities. In the presence of around 200 guests, Prof. Dr. Didier Stainier, Dr. Christopher Dooley, and Lara Falcucci from the Max Planck Institute for Heart and Lung Research in Bad Nauheim were honored for their internationally acclaimed research on transcriptional adaptation.
Their groundbreaking discovery: a natural genetic protection mechanism can be purposefully harnessed to compensate for the loss of disease-relevant genes. The realization that mRNA fragments actively contribute to the regulation of other genes marks a fundamental shift in our understanding of genetic processes – and holds promise as a potential milestone for people affected by the currently incurable Duchenne muscular dystrophy.
“All life is problem solving”
With a deeply personal tribute, foundation board member Dr. Ulrike Köhler opened the event by remembering her father, former Federal President Horst Köhler, who passed away in February. Quoting Karl Popper’s well-known words, often cited by her father – “All life is problem solving” – she honored his lasting commitment to people with rare diseases: “Without the foundation my father laid, we would not be here today to present the Research Award for the 17th time.” She also expressed heartfelt thanks to her mother for her tireless dedication: “You fight for urgently needed research with persistence, empathy, charm, and the stamina of a long-distance runner.”
A Paradigm Shift in the Treatment of Rare Diseases
The award-winning research by the team led by Didier Stainier is based on the discovery that, in the case of genetic defects, certain mRNA fragments can prompt the body to activate functionally related genes. In their current project, the researchers were able to demonstrate this mechanism for the first time in human cells of patients with Duchenne muscular dystrophy (DMD). Specifically, the structurally related gene utrophin is activated, which can partially compensate for the loss of dystrophin – a potential breakthrough in treating this previously incurable muscle disease, and a promising perspective for many others.
“The targeted use of the body’s own compensatory mechanisms opens up new therapeutic paths where existing treatments reach their limits,” said Prof. Dr. Annette Grüters-Kieslich, Chair of the Board of the Eva Luise and Horst Köhler Foundation, in her laudatory speech. She not only honored the visionary basic research with clear clinical relevance, but also emphasized the outstanding teamwork behind it: “A distinguished scientist, an experienced senior postdoc, and a courageous young researcher who – as the English so aptly say – is being empowered. This is what successful research looks like: collegial collaboration at eye level. This is research in the spirit of our foundation.”
Inspiring Confidence Through Research
In his keynote address, Professor Josef Hecken, Independent Chairman of the Federal Joint Committee (G-BA), emphasized the importance of overcoming structural barriers in order to translate excellent research into real-world care: “We must shape our procedures in a way that brings innovation to patients more quickly – especially to those who currently have no treatment options.”
He highlighted the crucial role of Centers for Rare Diseases as coordinating hubs that effectively connect research, diagnostics, and therapy. Strengthening these centers structurally – through clear access pathways, reliable funding, and digital integration – is essential to closing care gaps and anchoring innovation in clinical practice. With 36 established centers and pioneering initiatives like TRANSLATE-NAMSE, Germany has laid a solid foundation – the task now is to build on it consistently and ambitiously.
Geske Wehr, Chairwoman of the Alliance for Chronic Rare Diseases (ACHSE e.V.), also emphasized how important good framework conditions for research are from the perspective of patients: “If we had more data, we could act much more effectively!” she stressed, adding: “Research creates hope – and hope changes lives.”
Recognition for Diagnostic Excellence: Special Award for the “Decode MND” Research Project
In addition to the main prize, a special recognition award was presented this year. Dr. Isabell Cordts (Technical University of Munich, TUM) and Prof. Dr. Thomas Klopstock (Ludwig Maximilian University of Munich, LMU) were honored for their project “DEtecting genetic Causes Of rare motor neuron DiseasEs – Decode-MND.” Using advanced long-read sequencing, the project uncovers previously undetected genetic causes of severe motor neuron diseases.
“You are building an important bridge between molecular research and clinical practice,” emphasized Eva Luise Köhler, “and in doing so, you offer new perspectives to people who often live for years without answers.”
Together for the Medicine of Tomorrow
During the “Eva Luise Köhler Lecture Talk,” moderated by Heinz Wilkens, guests gained deeper insights into the award-winning research projects and learned about the next steps planned by the prize-winning teams. Dr. Henry Wahlig, himself affected by Hereditary Spastic Paraplegia and representing the Tom Wahlig Foundation, enriched the discussion with valuable perspectives on living with a rare disease.
On the occasion of the summer solstice, the award ceremony also sent a symbolic message, as Eva Luise Köhler emphasized: “A day full of light – and a fitting moment to turn our attention to those who all too often remain in the shadows. Precisely because their diseases are rare, they need our special focus.” She warmly invited all guests to join the mission of the Eva Luise and Horst Köhler Foundation: to inspire courage through research and to ensure, together, that medical progress reaches everyone. The evening concluded with lively conversations and a clear message: research is the key to better health.
The Awardees
Prof. Dr. Didier Y. R. Stainier is Director at the Max Planck Institute for Heart and Lung Research in Bad Nauheim and one of the world’s leading scientists in the field of developmental genetics. He studied biology at Brandeis University (USA) and earned his PhD at Harvard University. Following a research stay at Harvard Medical School, he led his own laboratory for many years at the University of California, San Francisco, before joining the Max Planck Institute in Germany in 2012. His research focuses on the genetic and molecular mechanisms of organ development and regeneration. With his work on transcriptional adaptation, he has discovered a fundamental biological principle that opens up entirely new therapeutic possibilities for genetic disorders. He has received numerous awards for his research, including several prestigious ERC Advanced Grants, and was the inaugural recipient of the Christiane Nüsslein-Volhard Award from the European Zebrafish Society.
Dr. Christopher Dooley is a postdoctoral researcher in the Department of Developmental Genetics at the Max Planck Institute for Heart and Lung Research in Bad Nauheim. His work centers on the molecular mechanisms of genetic compensation, with a particular focus on transcriptional adaptation. As part of the award-winning project, he investigates how mutations in specific genes can be compensated by the activation of functionally related genes, with the goal of developing new therapeutic approaches for rare genetic diseases.
Lara Falcucci is a doctoral researcher in the Department of Developmental Genetics at the Max Planck Institute for Heart and Lung Research in Bad Nauheim. She is the first author of a study demonstrating transcriptional adaptation in human muscle cells affected by Duchenne muscular dystrophy. Her work significantly advances the understanding of genetic compensation mechanisms and offers promising new avenues for the treatment of rare genetic disorders.
Dr. Isabell Cordts is a physician and scientist at the Department of Neurology, TUM Klinikum rechts der Isar, Technical University of Munich. She completed a postdoctoral fellowship at the Mayo Clinic in Jacksonville, Florida, USA, funded by a Walter Benjamin Fellowship from the German Research Foundation (DFG). During this time, she applied long-read RNA and DNA sequencing technologies to investigate amyotrophic lateral sclerosis (ALS) and related motor neuron diseases.
Dr. Cordts leads the Translational Neurogenetics research group, with a strong focus on rare neurological diseases. Her work is supported, among others, by a Hertie Fellowship within the Hertie Network of Excellence in Clinical Neuroscience. In addition, she serves as a clinical investigator in several multicenter studies aimed at identifying biomarkers and improving diagnostic strategies for neuromuscular diseases.
Prof. Dr. Thomas Klopstock is a neurologist and senior consultant at the Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilian University of Munich (LMU). He heads the Center for Mitochondrial Disorders at LMU University Hospital and serves as coordinator of the German Network for Mitochondrial Diseases (mitoNET) and the international research project TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration). He is also co-spokesperson of all rare disease research consortia funded by the German Federal Ministry of Education and Research (Research4Rare).
Prof. Klopstock is actively involved in numerous other research networks focusing on rare neurological conditions, including motor neuron diseases such as ALS and hereditary spastic paraplegia (HSP). His work centers on identifying novel disease genes, elucidating disease mechanisms, coordinating international registries and natural history studies, and developing new diagnostic and therapeutic approaches for rare neurogenetic diseases.
Impressions from the Presentation of the 17th Eva Luise Köhler Research Award on June 20, 2025, in Berlin
Photos: Andrea Katheder
We extend our heartfelt thanks to our partners for their generous financial support: Pfizer Pharma GmbH, Takeda Pharma Vertrieb GmbH & Co KG, Sanofi-Aventis Deutschland GmbH, Alexion Pharma Germany GmbH, Chiesi GmbH, Ipsen Pharma GmbH, UCB Pharma GmbH, and PTC Therapeutics Germany GmbH.
