Valérie Gailus-Durner, Scientific Head of the German Mouse Clinic (GMC), presented the collaborative effort of the partners in CHARLIE at the Re(act) Conference and IRCiRC Conference in Berlin 15-18 March 2023. A poster of first results from phenotypic and metabolomic analysis of the newly generated Ald7a1 Knock-out model (PDE model) was shown and lively discussions took place about how patient organisations and clinicians can access the GMC for generation of new rare disease models.

The German Mouse Clinic (GMC) characterizes mouse models for human diseases to understand molecular mechanisms of human disorders and for the development of new therapies. The GMC at the Institute of Experimental Genetics, Helmholtz Zentrum München, provides a phenotyping platform for mouse models that covers all disease relevant organs. The different phenotyping modules are headed by experts in the field (www.mouseclinic.de). We provide our expertise and infrastructure to support the Rare Disease Community in developing and validating translational models for rare diseases. Within CHARLIE, we generated and systematically phenotyped Aldh7a1 and Gcdh deficient mice as a model for PDE and GA1 to study the effects on the different organ systems. With our collaboration partners we investigate new biomarkers for the diseases suitable for diagnostic and therapeutic monitoring. Further, by generating and phenotyping PDE and GA1 model with additional Aass KO, we study the therapeutic potential of Aass deficiency in these disease models.