Neuroblastom – när fosterutvecklingen går fel

Neuroblastoma is a childhood tumor that affects the sympathetic nervous system. It is the most common cancer form in infants, and is accountable for 15% of all cancer-related deaths in children. Neuroblastoma is believed to arise due to developmental defects during embryogenesis, but the precise origin and cause of tumor is unknown. The lack of embryonic models that properly recapitulate the development and microenvironment has hampered our knowledge on neuroblastoma initiation, and thus also findings of useful biomarkers and development of new treatments. My research group is using chick embryos to create models where we can study disease from the point of transformation until end of embryogenesis. We have established a human-chick chimera, using human pluripotent stem cells and chick embryos as a host. In this way, we implement species relevance while still being able to do functional in vivo studies of nervous system development. We also developed a CRISPR/Cas conditional in vivo knockout model for studies of any endogenous gene of interest. We have identified two separate genes important for proper embryogenesis and tumor formation. Our aim is to decipher the biological functions behind this, and its implications for disease. By doing so, we hope to identify biomarkers for early diagnosis, and new targets for personalized medicine.