Examining the link between Down syndrome and blood cancer | Leukaemia Foundation

Examining the link between Down syndrome and blood cancer


People with Down syndrome have a heightened risk of developing a blood cancer or disorder, with research indicating an extra copy of a blood cell development gene might be responsible.

The role of the gene, called the Erg gene, in predisposing to Down syndrome blood disorders is being examined by Dr Ashley Ng, a researcher at the Walter and Eliza Hall Institute of Medical Research and haematologist at the Royal Melbourne Hospital.

Dr Ng recently shared his findings at a blood cancer seminar in Brisbane sponsored by the Leukaemia Foundation.

Exciting discovery

Ash Ng

Pictured is Dr Ashley Ng. Photo courtesy of Walter and Eliza Hall Institute of Medical Research

Following on from studies he had undertaken in his PhD and the years in which he had been part funded by the Leukaemia Foundation, Dr Ng and his collaborators had determined the genetic role that an excessive copy of the Erg gene had on leading to abnormal blood cell development.

“People with Down syndrome have an extra section of DNA, known as chromosome 21, and hence an extra copy of the Erg gene,” Dr Ng explains.

The team’s work led to an exciting discovery. By reducing the functioning gene from three to the normal two in a model of Down syndrome, they successfully prevented a cancerous blood condition from developing.

“Our group was the first to show that an excessive dose of the Erg gene played a key role in the development of blood cancer in a model of Down syndrome,” Dr Ng said.

Where to from here?

Following on from this work, Dr Ng said he is continuing to define roles for Erg and other genes by analysing key interrelations between genes that may predispose an individual to cancer development.

“I also aim to identify genes that may work with Erg to drive the development of leukaemia and other blood cancers,” he said.

These investigations could eventually allow new target therapies to be developed for leukaemia.

Dr Ng’s team has also explored the role of Erg in normal blood cell development.

Dr Ng spoke at a recent blood cancer seminar in Brisbane,  run by the Brisbane Diamantina Health Partners and proudly sponsored by the Leukaemia Foundation.



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