Killing neuroblastoma cells by turning off a gene

Dr Karen MacKenzie

Dr Karen MacKenzie

UNSW SydneyFunding duration: 2015–2018

This research has provided a groundbreaking insight into the relationship between the protein dyskerin and neuroblastoma, a deadly childhood cancer.


Neuroblastoma accounts for around 15% of deaths from cancer in children. The outlook for those diagnosed with aggressive neuroblastoma is particularly poor, with the chance of long term survival less than 40%. The treatment of high-risk neuroblastoma would be vastly improved by new therapies that can specifically target the molecular pathways involved in the progression of this cancer. This has been the focus of Dr MacKenzie’s research.

The research

Previous studies have shown that a protein called dyskerin is present in elevated levels in neuroblastomas, and Dr MacKenzie and her team investigated whether this link could be used to improve neuroblastoma treatment. As dyskerin appears to be required for the growth of neuroblastoma cells, the researchers have tested how well the protein works as a drug target.

Dr MacKenzie and her team have found that blocking production of the dyskerin protein not only halts the replication of neuroblastoma cells, but can actually kill the cells too.

Based on their findings, the team proposed that blocking dyskerin may also be an effective way to stop the growth of other aggressive cancers that feature similar genetic abnormalities as neuroblastoma, including lymphoma and breast cancer.

The impact

In discovering that blocking the dyskerin protein can stop and kill neuroblastoma cells, the team have identified a promising new target for developing new therapeutic strategies to improve survival outcomes for children with neuroblastoma. The next phase of this work is to identify which drugs can block dyskerin effectively. Once the drugs have been identified, this new treatment approach can be tested in preclinical trials for neuroblastoma and potentially other aggressive cancers with similar genetic abnormalities.

Dr MacKenzie’s work offers new hope for much-needed targeted treatments for the devastating childhood cancer, neuroblastoma, and other aggressive and hard-to-treat cancers.

Lead ResearcherResearch Team

Dr Karen MacKenzie
UNSW Sydney

Associate Professor Preethi Gunaratne
Dr Jamie Fletcher
Dr Bing Liu
Associate Professor Tracy Bryan

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