Genetics and Molecular Pathology Spotlight

23 March 2022

What do the team in the Genetics and Molecular Pathology Laboratory do? 

The answer is a whole lot.

“We could sequence you and give you some ideas of what babies you might have and what diseases they might have in the future.

Or we might actively look for problems in children after they’re born or even when they’re in utero - which is some of the work we’ve been doing both diagnostically and in research. 

Right through to if you or any of your loved ones or friends get cancer. Their samples are likely to come through here, either as part of diagnostics or research. Again, we’ll try and work out what type of cancer it is and how best to treat it."

So how do the team decide what they’re working on?

Sometimes the answer is in “the pedigree”, otherwise known as a family tree, that depicts the biological relationships between family members and can indicate which individuals have certain clinical problems that may result from pathogenic or deleterious genetic variants, within the family. If someone shows up on a pedigree with a clinical problem, Professor Hamish Scott says he wants to work on it and find out what’s wrong.

“We want to know what this problem is, how it is caused, and how [the patient] might be helped by knowing.”

The team are solving “Medical Mysteries” every day, many of which have never been prescribed before.

In fact, they made a widely publicised breakthrough earlier this month with the Centre for Cancer Biology (CCB), a research alliance between the University of South Australia and SA Pathology. Their incredible work identifying a genetic mutation - responsible for a lymphatic disorder that may cause stillbirth, or severe chronic disease in children.

The discovery, Prof Scott says, was a long process “with serendipity involved”.

Beginning years ago, Prof Scott knew that he wanted to work on a specific group of sub-cancers: inherited blood cancers.

As the research developed, patients that were found to have these cancers were sometimes also showing lymphatic defects.

People with this defect were also having stillborn babies.

This discovery tied in with research and diagnostics from up to thirty years ago.

“From this we discovered more and more babies which had this defect, and we found a new gene which can cause this defect, which can be fatal for kids in utero, but it can also be treated in utero.”

The natural course of the disease throughout the child’s life is still being investigated.

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