Rare inborn disorders of lysine metabolism – CHARLIE meeting 2024 hosted by the German Mouse Clinic

On April 29th and 30th, the second F2F CHARLIE Consortium meeting took place at Helmholtz Munich, organized by the German Mouse Clinic (GMC) as research partner, and supported by INFRAFRONTIER, the European Infrastructure for Modeling Human Diseases.

CHARLIE (Changing rare disorders of lysine metabolism) is an international research consortium funded by the European Union’s Horizon 2020 research and innovation program, addressing rare inborn errors of lysine metabolism (https://www.charlie.science/).

Scientists, physicians and patients’ representatives from different countries are working together in this project to develop and validate new therapies and biomarkers to prevent brain damage in glutaric aciduria type 1 (GA1) and pyridoxine-dependent epilepsy (PDE).

At the conference members of the CHARLIE consortium presented their latest research to discuss the scientific progress, the therapeutic impact, and the future of the consortium. The first day started with an introduction to the GMC´s activities followed by a laboratory tour to visit the state-of-the-art research facilities. Besides presenting their research, the two days were used intensively for interaction and discussion. The strength of the consortium is that the scientist and clinicians involved work with different model systems (patient cells, mice, fish), in different disease stages and potential intervention targets. In addition, patient representatives and patient experts bring in the needs and perspectives of patients. Even now, the CHARLIE consortium has made impressive progress in understanding the diseases and paved the way to therapy development and early diagnosis.