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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.

Johnny is just one year old when he and his parents are diagnosed with NEDAMSS (NEurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizure). There are only 21 affected children worldwide at this time. Without treatment options, the very rare disease will gradually take away everything Johnny has learned up to this point.

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?"

Um forschenden Kinderärzt:innen schon in der Ausbildung die nötigen Freiräume für wissenschaftliches Arbeiten auf hohem Niveau zu verschaffen, setzt das von der Eva Luise und Horst Köhler Stiftung initiierte Forschungsnetzwerk Alliance4Rare unter anderem auch auf strukturierte Clinician Scientist Programme. Einer von ihnen ist Dr. Simon Badura vom Universitätsklinikum Göttingen. Er stellt sich und seine Forschungsarbeit vor.

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.