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„Ich danke Ihnen für mein Leben!“ Der Mann, der dies zu Nicole Schlautmann sagt, müsste statistisch gesehen schon tot sein. Dass er dennoch von seinen gesundheitlichen Fortschritten berichten kann, liegt wesentlich an einem innovativen Medikament, das kurz zuvor entwickelt wurde.

Es sind Momente wie dieser, die die studierte Biologin antreiben. Heute ist sie in leitender Position für das international agierende Pharmaunternehmen Pfizer tätig, wo sie ihre Passion für die „Seltenen“ als Geschäftsführerin in Österreich einbringt.

"We take care of the process of how knowledge comes into effect," says Christopher Baum, summarizing the mission of the Berlin Institute of Health (BIH). In order to bring new findings quickly into application, he says, it is essential to "go beyond the boundaries of one's own laboratory." Well-coordinated collaboration allows necessary steps to be worked through in parallel. Baum is convinced that this can shorten the development of new therapies by years. This is why it is not possible without broad alliances that also bring industry on board in good time.

In a festive award ceremony, Eva Luise Köhler presented the 15th Eva Luise Köhler Research Award for Rare Diseases to Dr. Simone Mayer, a molecular biologist from Tübingen, and Dr. Axel Lankenau and Dr. Julia Matilainen from the self-help association PCH-Familie.

The role of prevention in the field of rare diseases was the focus of the 7th Rare Disease Symposium of the Eva Luise and Horst Köhler Foundation. Together with around 150 participants, the possibilities and limits of prevention in the field of rare diseases were examined from a medical, ethical and social perspective.

Eva Luise Köhler will hand over the research award named after her to molecular biologist Dr. Simone Mayer from Tübingen in the presence of Federal Minister of Health Prof. Dr. Karl Lauterbach at the Berlin-Brandenburg Academy of Sciences and Humanities on Friday, June 9, 2023 at 5 pm. Together with her, Dr. Julia Matilainen and Dr. Axel Lankenau from the self-help association PCH-Family are honored

Annette Grüters can look back on 40 years of commitment to children with rare diseases. Some of their cases have been on her mind for decades. That may explain her impatience. The pediatrician, who has held many high-ranking offices during her career, finds it "unbearable" that a concerted national research strategy is still lacking, even though there are more promising new therapeutic options than ever before. And so she is starting to plan and forge an "alliance of the willing" herself. Because, "What are we waiting for?"

He often sees children without a diagnosis who have already been through a long odyssey. Thorsten Marquardt does not always succeed in finding out in time how to help them. He believes that families owe it to themselves to keep searching: "When a child dies, something is always left behind, as a legacy for the next child, so to speak." Professor Marquardt, who with his team has already discovered more than 20 diseases and made many of them treatable, is convinced that there is "still a lot of potential" in research on rare diseases.

How do you work in the awareness that you are often the only hope for families with a seriously ill child? Jutta Gärtner and Hendrik Rosewich are one of the few points of contact for pediatric neurological disorders, such as pediatric dementia or unclear movement disorders. Once a diagnosis is made, a grueling race against time begins. In the search for therapies, patient care and research must go hand in hand - also often on weekends. The neuropediatricians at the University Hospital Göttingen experience their work as "deeply meaningful".

PCH-Familie e.V und 19 weitere Verbände berichten von besorgniserregenden Entwicklungen in der außerklinischen Pflege und fordern Nachbesserungen am Intensivpflegegesetz

Am 10. Juli 2023 haben sich Bund und Länder auf die Eckpunkte für die Krankenhausreform geeinigt. In diesem Zusammenhang appelliert die Eva Luise und Horst Köhler Stiftung an die politisch Verantwortlichen: Menschen mit Seltenen Erkrankungen dürfen nicht vergessen werden!

The research network Alliance4Rare, initiated by the Eva Luise and Horst Köhler Foundation, and the Berliner Sparkassenstiftung Medizin will fund four positions in the fields of pediatrics and human genetics, each with 25% research time on rare diseases, at the Charité Universitätsmedizin site as of January 1, 2024.

The TRANSFUSION Hackathon 2023 in Nuremberg will focus on rare diseases. You are cordially invited to participate and think along!