Posted: 07th July 2021
A three-year Medical Research Future Fund (MRFF) grant of almost $1 million has been awarded to Prof Carl Walkley and Dr Monique Smeets in SVI’s Cancer and RNA Biology Lab. The funding will drive forward investigation of a highly promising new pathway to prevent and treat incurable adolescent bone and other cancers caused by specific changes in DNA.
Through fine-grained genetic analysis, the SVI team and their partners will improve understanding of cancers driven by changes (mutations) in the RECQL4 gene. Changes in this gene affect DNA replication and repair, and are a known cause of teenage osteosarcoma (bone cancer) in particular.
“About 400 Australians each year are diagnosed with osteosarcoma, most of them children, teens and young adults,” Carl notes.
“There are currently no specific treatment options for young people with bone and other cancers caused by changes in RECQL4 – but we plan to change that. This research will help us better understand how changes in the function of RECQL4 can cause cancer, unlocking new potential for targeted treatments.”
Vital to the normal growth of bones and skin cells, the gene RECQL4 is also associated with the rare genetic disease Rothmund-Thomson Syndrome (RTS), an inherited condition affecting the skin, teeth, eyes, endocrine and reproductive systems; about one-third of people with RTS develop osteosarcoma.
Carl and Monique’s research collaborators on the MRFF project include Dr Jess Holien of RMIT University and Prof Tiong Tan of Murdoch Children's Research Institute.