CDG

Her interest in diseases of the energetic metabolism has allowed her to integrate her clinical experience, notably her observation of the importance of inflammation in the decompensation of her patients and her skills in molecular biology, biochemistry, genetics and cell biology (> 300 publications). The team will join Peter van Endert’s team (Institut Necker Enfants Malades, INEM), with fundamental research specialised in immunology and cell trafficking in 2018. They have access to a wide range of state-of-the-art core facilities of the Necker campus, including confocal microscopes, flow cytometers and tools to study cell metabolism (Seahorse technology) for fundamental research that has been supported by several grants (ANR, AFM…).

Tomáš Honzík ia a leading Czech specialist in pediatric medicine and metabolic diseases

she is helping with the organization of the 6th World CDG Conference in 2023, as well as the communication and promotion of the activities promoted by APCDG and CDG & Allies. 

She represents CDG as a member of the Steering Committee and Single Point of Contact (SPOC) of the European Reference Network for Hereditary Metabolic Disorders (MetabERN).