Bone Abstracts

Biographical Details

Uwe Kornak

Uwe Kornak, MD PhD, is leader of a research group at the Institute of Medical Genetics and Human Genetics, and the Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin and the Max Planck Institute for Molecular Genetics, Berlin, Germany. Through his work as a human geneticist he has a broad experience with clinical and molecular genetic diagnostics of rare human disorders with a special focus on neuromuscular and skeletal phenotypes. He has established several gene panels for diagnostics of metabolic and skeletal disorders and helped to develop bioinformatics tools for data evaluation. As a basic researcher, he is most interested in understanding the cellular pathophysiology of hereditary disorders of the skeleton and of connective tissues. An important focus has always been the regulation of trafficking and ion homeostasis of intracellular compartments with a focus on Golgi-related processes including glycosylation. During his PhD project as a biochemist at the Center for Molecular Neurobiology Hamburg Uwe Kornak became involved in the generation and interdisciplinary analysis of mouse models for human disorders. Up to now he not only identified several genes associated with human disorders, but also analysed the effect of these gene defects in in vitro and in vivo models using transgenic mice and zebrafish. Uwe Kornak has been reviewer for different human genetics journals and in 2007 received the Ian T Boyle award of the European Calcified Tissue Society and in 2011 the Ulmer Dermatologiepreis. He is member of three consortia on rare diseases (DIMEOs, SYBIL, and EURO-CDG).