Ceremony with Federal Minister of Health Lauterbach at the Berlin-Brandenburg Academy of Sciences – Therapy development for hereditary disease PCH2a
“Behind every rare disease, there is a person, a family, worries, and hope. A just society is shown by how well it deals with their needs,” said Federal Minister of Health Prof. Dr. Karl Lauterbach at the ceremony of the 15th Eva Luise Köhler Research Award for Rare Diseases on June 9, 2023, in Berlin, expressing his solidarity with those affected. He assured: “The federal government will do everything we can to support important research on rare diseases!”
Ceremony at the Berlin-Brandenburg Academy of Sciences
Together with about 200 invited guests, the Federal Minister accepted the invitation from 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, jointly presented with the Alliance for Chronic Rare Diseases ACHSE e.V., for her research project on therapy development for the neurological hereditary disorder Pontocerebellar Hypoplasia Type 2 (PCH2). Dr. Axel Lankenau and Dr. Julia Matilainen from the PCH-Family self-help association were also honored with her.
PCH2 is a very severe neurological developmental disorder in children, caused by a single swapped DNA building block. This tiny genetic mutation, which occurs in about one in a million people, disturbs the development of specific brain areas, leading to significant limitations in psychomotor development. Most affected children die before reaching adolescence.
Organoid research brings hope for PCH2a and other conditions
With the prize money of €50,000, Dr. Simone Mayer will review promising drug candidates for the treatment of PCH2a, the most common form of PCH2. In her lecture, the scientist vividly explained how her research group at the Hertie Institute for Clinical Brain Research in Tübingen uses brain organoids created from donated skin cells of children affected by PCH2a. These tissue structures can grow outside the human body in three dimensions and imitate the cellular architecture and certain functional aspects of brain areas. Brain organoids grant researchers insights into early brain development and the origins of neurological and psychiatric disorders. 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.
Medical progress opens a historic “window of opportunity”
Prof. Dr. Annette Grüters-Kieslich, chairwoman of the Eva Luise and Horst Köhler Foundation, explained in her eulogy why the innovative research project is so convincing: “Working with stem cell-based brain organoids shows the enormous scientific and technological advances that open a historic ‘window of opportunity’ for researchers and society,” she emphasized. She was impressed by the close cooperation between the researcher and the affected families: “You are truly a strong team. Here, we see what is possible in the field of rare diseases when everyone pulls together and acts with conviction: Successful research can only be done WITH those affected, not about them.”
This conviction is shared by laureate Axel Lankenau, who puts great hope in research. “Never before have so many highly motivated people been involved under such favorable circumstances in this topic as right now!” he emphasized in an impulse lecture, providing vivid insights into living with his two sons, Felix and Jonas, both affected by PCH2. Lankenau shared how he enables his sons to have a better quality of life and moments of happiness, which is only possible with the help of a 15-person care team, he emphasized as the chairman of the PCH-Family self-help association. He called on political decision-makers to provide this urgently needed care when implementing the planned Outpatient Intensive Care Directive.
Rare people need strong alliances – plenty of work remains
Eva Luise Köhler, also patron of the Alliance for Chronic Rare Diseases ACHSE e. V., emphasized the importance of cooperation and alliances in her welcome address: “From the heart, I invite everyone to join our mission – whether as research partners, supporters, or pioneers. Together, we want to do all we can to make medical progress possible, especially where it is urgently needed but not yet sufficiently secured.” Looking back on 17 years of foundation work for people with rare diseases, she stated: “A lot has been achieved, but there is still much to do and we need to work hard to secure these achievements for the future.” She named, for example, sufficient funding for centers for rare diseases, continuation of the national action alliance NAMSE, and expansion of the NARSE rare disease registry initiated by the Eva Luise and Horst Köhler Foundation.
Appropriate conditions must also be created that make excellent research in Germany possible, especially in the field of rare diseases. After all, time and again it becomes clear: “Those who recognize pathological patterns behind a rare disease can often derive causes for more common conditions from them.”
Again this year, there was a joyful surprise at the close of the event: Wera Röttgering, chairwoman of the Herzenswünsche association from Münster, presented a symbolic donation check for €30,000 to support the Alliance4Rare research initiative launched by the Eva Luise and Horst Köhler Foundation.
