Rare diseases affect children and adolescents in eight out of ten cases. Their participation in medical progress depends crucially on committed physicians who are dedicated to the balancing act between bedside and laboratory. To prepare researching physicians for the demanding tasks in the field of rare diseases and to provide them with the necessary freedom for scientific work at a high level, the research network Alliance4Rare, initiated by the Eva Luise and Horst Köhler Foundation, also relies on structured Clinician Scientist Programs (CS4RARE). The funding allows participants protected research periods in which they can advance scientific projects on rare diseases, released from clinical tasks.
In collaboration with the Berliner Sparkassenstiftung Medizin and the BIH Biomedical Innovation Academy, the Alliance4Rare, a research initiative of the Eva Luise and Horst Köhler Foundation, calls for applications for four positions with 25% research time each for JUNIOR Clinician Scientists for Rare (JCS4Rare) at the Charité Universitätsmedizin site as of January 1, 2024. The call is addressed to applicants who have started their medical training in the fields of pediatrics or human genetics less than three years ago. Further requirements for employment are a completed doctorate and a scientifically sound project outline in the field of rare diseases.
Participants will be accepted into the BIH Charité ((Digital) Junior) Clinician Scientist program and will additionally receive further training and networking opportunities tailored to the needs of rare disease research. The aim is to familiarize young scientists in the field of rare diseases at an early stage with topics and methods whose relevance will become stronger in the future and thus to promote the interlinking with other medical and natural science fields in the long term.
Based on developments in research and health care, the content of the curricula focuses on these topics:
Often, symptoms that do not lead to a diagnosis or diseases that have been assigned to a diagnosis but have unexpected courses conceal rare, previously undescribed and unexplored new diseases. New methods of genome analysis (Next Generation Sequencing, NGS) contribute significantly to accelerating the identification of the cause of diseases and thus enable completely new approaches to the identification of mutations in genetic diseases. These are complemented by procedures of other high-throughput methods such as transcriptome or proteome analysis. By analyzing identified gene variants in pluripotent stem cells. (iPSC) oder durch Einzelzellsequenzierungen lassen sich daran anschließend Krankheitsmechanismen identifizieren. Diese Verfahren sind sehr aufwendig, entwickeln sich schnell und benötigen eine spezialisierte Expertise, deren Grundlage im Rahmen dieses Junior Clinician Scientist Programms gelegt werden soll. Eine Kooperation mit der Biomedical Innovation Academy (BIA) und dem Projekt Case Analysis and Decision Support (CADS) des Berlin Institute of Health (BIH) an der Charité sowie dem Berliner Institut für Medizinische Systembiologie (BIMSB) des MDC schafft hierfür in Berlin exzellente Voraussetzungen.
With rapidly increasing computing power and storage capacities, major advances in information technology today enable AI-based systems that support medicine and bioinformatics in making diagnoses. Simultaneous access to a wide range of databases can verify suspected diagnoses based on clinical symptoms, or even make them in the first place. The standardized use of these learning systems can help to significantly shorten diagnostic paths. Clinician scientists will be given the opportunity to learn about and participate in the development of new technological challenges associated with advanced computational science approaches through this Junior Clinician Scientists program. A cooperation with the Junior Digital Clinician Scientist Program of the Biomedical Innovation Academy (BIA) of the BIH and a collaboration with the TU Berlin provide access to the latest technologies.
In addition, the curricula include supervision of participants by national and international mentors with proven expertise in rare diseases in childhood as well as participation in the annual Alliance4Rare Summer School and the Rare Disease Symposia of the Eva Luise and Horst Köhler Foundation in Berlin.
Applications can be submitted online via the BIH Application and Reporting Portal until September 5, 2023. Here you can find the access as well as further information and documents:
Contact: Sanna Börgel, boergel@elhks.de
The "Alliance4Rare" is a civil society-funded research initiative for children and young people with rare diseases, launched in 2022 by the Eva Luise and Horst Köhler Foundation. Alliance4Rare builds a bridge between the growing possibilities of modern precision medicine and the extremely urgent need for therapeutic options for children who are at risk of early death or severe disability due to disease mechanisms that are as yet poorly understood.
Die Berliner Sparkassenstiftung Medizin engagiert sich seit mehr als 30 Jahren in Berlin für Forschungserfolge in der Medizin sowie der Gesundheitspflege. Sie fördert die Entwicklung neuer medizinischer Lösungen, die erkrankten Menschen und deren Angehörigen Mut, Hoffnung und Zuversicht geben sollen. Aktueller Förderschwerpunkt sind Seltene Erkrankungen.
