Understanding and improving outcomes for a rare childhood cancer syndrome.

Project description

We are interested in understanding how a particular faulty gene called RECQL4 causes a rare inherited disease called Rothmund-Thomson Syndrome (RTS). RTS patients have developmental problems with their bone and other organs and have an increased risk of developing cancer, particularly the bone cancer osteosarcoma. We have used information from human patients to model this disease in mouse, and then applied these models to find ways to counteract the effects of the mutant RECQL4 protein. We have now identified a specific pathway that overcomes the mutation in RECQL4. This project will focus on understanding how this rescue occurs using cell biology, genetics and protein analysis. The information gained will enable us to understand how RECQL4 mutation can cause cancers and identify potential ways to treat these patients.