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A4R – Alliance4Rare

Alliance4Rare: Research Network for Rare Diseases Expands

Dr. Ruth Maria Urbantat from the Department of Pediatrics with a focus on Pneumology, Immunology and Intensive Medicine, and Dr. Nina-Maria Wilpert from the Department of Pediatrics with a focus on Neurology at Charité Campus Virchow-Klinikum (CVK) will join the Junior Clinician Scientist for Rare Program (JCS4R), developed by the Eva Luise and Horst Köhler Foundation and the Berliner Sparkassenstiftung Medizin, starting January 2024.

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Eva Luise and Horst Köhler Foundation and Berliner Sparkassenstiftung Medizin support two young pediatricians as Junior Clinician Scientists for Rare at Charité Berlin

The research initiative Alliance4Rare welcomes two new members to its ranks: Dr. Ruth Maria Urbantat from the Department of Pediatrics, specialized in Pneumology, Immunology and Intensive Medicine, and Dr. Nina-Maria Wilpert from the Department of Pediatrics, specialized in Neurology at Charité Campus Virchow-Klinikum (CVK), will join the Junior Clinician Scientist for Rare Program (JCS4R), jointly developed by the Eva Luise and Horst Köhler Foundation and the Berliner Sparkassenstiftung Medizin, starting in January 2024. The support from both foundations offers these young doctors not only comprehensive training in clinical work and research along with advanced education tailored to the needs of rare disease research, but also the opportunity to connect with (inter)national experts in the field of rare diseases.

In Search of Therapies for Primary Ciliary Dyskinesia (PCD)

Dr. Ruth Maria Urbantat is working on Primary Ciliary Dyskinesia (PCD). PCD is a rare multi-system disorder that often leads to severe pulmonary issues by early adulthood. Dr. Urbantat plans to use a biobank of airway epithelial cell cultures she has established to functionally characterize underlying mutations. Through innovative biochemical and functional methods, she aims to investigate sex-specific differences in cilia function and develop new therapeutic approaches for PCD.

Dopamine as a Key for Allan-Herndon-Dudley Syndrome (AHDS)

Allan-Herndon-Dudley Syndrome (AHDS) is the focus of Dr. Nina-Maria Wilpert’s research at the Department of Pediatrics, Neurology. AHDS is an ultra-rare condition caused by defective thyroid hormone transport. Dr. Wilpert has found promising results regarding dopamine supplementation for AHDS patients and aims within the JCS4Rare Program to further investigate the connection between thyroid hormone and dopamine metabolism. Her goal is to identify target cells and a time frame for effective therapies.

JCS4R – A Model for the Future of Pediatric Research

“We congratulate Dr. Urbantat and Dr. Wilpert on their outstanding projects and look forward to following their progress in research,” says Prof. Dr. Annette Grüters-Kieslich, Chairwoman of the Board of the Eva Luise and Horst Köhler Foundation. Prof. Dr. Marc Schmittner, Director of the Clinic for Anesthesiology, Intensive Care and Pain Medicine at BG Unfallkrankenhaus Berlin, who participated in the selection colloquium for the Berliner Sparkassenstiftung Medizin, is also impressed: “The future of medicine lies in such dedicated and talented researchers.”

Both foundations appreciate the good and trusting cooperation with the BIH Biomedical Innovation Academy (BIA). The BIA leadership team, Dr. Nathalie Huber and Dr. Iwan Meij, highlight: “We welcome the additional funding for the field of rare diseases within our BIH Charité Junior Clinician Scientist Program. The successful first call for proposals shows that together with both foundations and dedicated mentors we can further expand excellent research in this area.”

Protected Research Time in Clinical Routine

Under the umbrella of the established interdisciplinary Berlin program, Dr. Urbantat and Dr. Wilpert can receive optimal career support, emphasizes Prof. Dr. Il-Kang Na, Director of the BIH Charité Clinician Scientist Program. Their positions will be financed for two years from January 2024 by the Eva Luise and Horst Köhler Foundation and the Berliner Sparkassenstiftung Medizin. Protected research times amounting to 25% of their employment enable the doctors to advance their research projects while being released from clinical duties.

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