Clinical and Molecular Aspects of Osteopetrosis and SOST-Related Sclerosing Bone Dysplasias

Dr. Natasha Appelman-Dijkstra is a  Internist-endocrinologist and full professor Internal Medicine in particular Bone and Mineral Disorders at Leiden University. Coordinator of the European Registries of Rare Endocrine and Bone disorders. 

After studying biochemistry and medicine in Berlin and Hamburg Uwe Kornak did his PhD at the Center for Molecular Neurobiology Hamburg, where he started working on osteopetrosis. After that, he did a postdoc in Paris before joining the Max Planck Institute for Molecular Genetics and the Institute for Medical Genetics at Charité-Universitätsmedizin Berlin in 2003. After establishing a research group at the BIH Centre for Regenerative Therapies (BCRT) and the Charité he finished his clinical specialization in human genetics and became Professor for Mechanisms of Genetics Diseases in 2011. He was deputy director of the institute of Medical Genetics and Human Genetics at Charité and of the genetic diagnostics department at Labor Berlin GmbH. In 2020 he moved to the University Medical Center Göttingen to become head of the Department for Medical Genetics at the Institute of Human Genetics, where he established an interdisciplinary Center for Rare Skeletal Disorders. Uwe Kornak participated in many national and international research consortia on rare skeletal and metabolic disorders. After he had participated in the identification of numerous genes for skeletal disorders he is now focussing on diagnostics, disease mechanisms and therapeutic strategies.