Bone Abstracts

The massive amount of genetic information made available by next generation sequencing (NGS) has already changed our clinical and scientific approach to skeletal disorders. As one consequence the gap between rare monogenic disorders and common complex disorders is becoming more permeable. On the one hand this is due to the finding that rare variants with larger effect sizes also have significance for common disorders. On the other hand, broader testing strategies reveal a cons...

Biographical DetailsUwe KornakUwe 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...

Neurofibromatosis type I (NF1) is a monogenetic disorder caused by mutations in the NF1 gene encoding for the Ras-GAP protein neurofibromin. Apart from benign tumour development NF1 is frequently associated with skeletal manifestations such as osteopenia or debilitating focal skeletal dysplasia. To assess a function of Nf1 in osteocytes we here apply a combinatorial approach of biophysical, histological and molecular techniques allowing differential analysis ...