"Behind every rare disease there is a person, a family, there are worries and hope. In dealing well with their needs, a just society proves itself," with these words, Federal Minister of Health Prof. Dr. Karl Lauterbach expressed his solidarity with people with rare diseases during the award ceremony of the 15th Eva Luise Köhler Research Prize for Rare Diseases on June 9, 2023 in Berlin. He assured: "The German government will do everything in our power to support the important research on rare diseases!"
Together with around 200 invited guests, the Federal Minister accepted the invitation of the Eva Luise and Horst Köhler Foundation to the Berlin Brandenburg Academy of Sciences. Dr. Simone Mayer from the Hertie Institute for Clinical Brain Research and the University of Tübingen received the award, which was presented in cooperation with the Alliance of Chronic Rare Diseases ACHSE e.V., for her research project on the development of a therapy for the neurological hereditary disease pontocerebellar hypoplasia type 2 (PCH2). Together with her, Dr. Axel Lankenau and Dr. Julia Matilainen from the self-help association PCH-Familiy were honored.
PCH2 is a very severe neurodevelopmental disorder in children. It is caused by a single swapped DNA building block. The tiny gene alteration, which occurs in only about one in a million people, causes a disruption in the development of certain brain areas, leading to significant limitations in psychomotor development. Most affected children die before they reach adolescence.
Dr. Simone Mayer will use the awarded money of 50,000 euros to review promising drug candidates for the treatment of PCH2a, the most common form of PCH2. In a lecture, the scientist impressively explained how she and her research group at the Hertie Institute for Clinical Brain Research in Tübingen use brain organoids generated from donated skin cells of children affected by PCH2a. These tissue structures can grow three-dimensionally outside the human body and mimic the cellular architecture and certain functional aspects of brain areas. Brain organoids thus provide researchers with insights into early brain development and the genesis of neurological and psychiatric diseases. They also enable the study of the effects of drugs, toxins, germs or viruses as well as genetic variability on human brain cells and brain development.
In her laudatory speech, Prof. Dr. Annette Grüters-Kieslich, Chairwoman of the Eva Luise and Horst Köhler Foundation, explained why the innovative research project was so convincing: "The work with stem cell-based brain organoids demonstrates the enormous scientific and technological advances that are providing researchers and us as a society with a historic window of opportunity," she emphasized, and was impressed by the close collaboration between the researcher and the affected families: "They are a truly strong team. We can see here what is possible in the field of rare diseases when everyone is working together and acting with the same conviction: Successful research can only be done WITH the people affected, not about them."
This belief is also shared by award winner Axel Lankenau, who has high hopes for the research. "There have never been so many highly motivated people under such good conditions involved in the subject as right now!" he emphasized in a keynote speech in which he gave impressive insights into life with his two sons Felix and Jonas, who are affected by PCH2. Lankenau talked about how he enables his sons to have a better quality of life and creates moments of happiness. This is only feasible with the help of a 15-member care team, underlined the chairman of the self-help association PCH-Family.. He appealed to the political decision-makers to implement this urgently needed care also in the implementation of the planned Out-of-Hospital Intensive Care Directive.
The importance of cooperation and alliances was emphasized by Eva Luise Köhler, also patron of the Alliance of Chronic Rare Diseases ACHSE e. V., in her welcoming address, too: "From the bottom of my heart, I invite everyone to join us in our mission - whether as researching or supporting partners. Together, we want to do our utmost to make medical progress possible. Specifically where it is urgently needed but not yet sufficiently secured." Looking back on 17 years of the foundation's work for people with rare diseases, she noted, "Much has been achieved, yet a lot remains to be done, and we must strive to make what has been achieved future-proof." As examples, she mentioned sufficient funding for the centers for rare diseases, the continuation of the National Action Alliance NAMSE and the expansion of the Registry for Rare Diseases NARSE initiated by the Eva Luise and Horst Köhler Foundation.
Additionally, framework conditions must be created that enable excellent research in this country, especially in the field of rare diseases. After all, it has been repeatedly shown that "those who recognize the pathological patterns behind a rare disease can often deduce the causes of more common diseases.
Also this year there was a happy surprise at the end of the event: Wera Röttgering, the 1st chairwoman of the association Herzenswünsche from Münster, presented a symbolic donation check for 30,000 euros to support the Alliance4Rare research initiative initiated by the Eva Luise and Horst Köhler Foundation.
