New Projects: How a mutation can be beautiful

“The real beauty of this work lies in the possibilities it opens up for treating cancer.” Dr Arcadi Cipponi, Senior Researcher

At the Garvan Institute, the gloves are off in the fight against cancer. What’s incredibly exciting is we’re making real headway. Right now, we're working on a project that will be able to pinpoint all the mutations of a single gene that increase the risk of cancer.

If it’s successful, it should mean it will be much easier to predict someone’s chances of getting cancer, so it’s possible to find it and tackle it early, potentially saving thousands of lives.

Some of our most exciting and valuable research – real game changers – start just like this one. With someone noticing a trend in the data, or turning a problem inside out and looking at it from a different angle. But without funding, they can’t get any further.

A beautiful discovery in the fight against cancer

“ERCC2 protects our genome from acquiring unwanted and dangerous mutations. If it doesn’t work well, we are at risk.” – Dr Arcadi Cipponi

Damage to the gene ERCC2 has long been suspected of playing a role in cancer. It makes logical sense – if the gene that repairs DNA is damaged, it can’t do its job properly. Trouble is, there is no comprehensive proof.

Dr Arcadi Cipponi and his team have decided to find that proof. Their project aims to comprehensively map every single variant – or mutation – of ERCC2. Each variant will be tested in the lab to see how well it functions when it’s been damaged.

The better the variant is at repairing the damage, the less likely it will be to cause cancer.

The power this gives to clinicians is truly invaluable. Thanks to the ERCC2 map and other gene maps that will come after, they’ll be able to predict risk in their patients, so they can monitor, detect and potentially treat cancer more effectively.

That’s not all.

Dr Cipponi also expects that as we learn more about the consequences of ERCC2’s genetic mutations, pharmaceutical companies will develop new drugs that will restore the gene’s normal function of DNA repair.

It’s one more critical step towards personalised medicine. And it’s a big one.

Opening the doors to a clinical revolution

“If our approach works, we can use it for any gene, essentially.” – Dr Arcadi Cipponi

One of the truly exhilarating aspects of this project is what it may mean for the future of medicine.

The team is also testing two different methodologies to get their results. The first is more costly, but the second, a new technique developed at Garvan, could pave the way for cost-effective mapping for hundreds, or even thousands of genes.

Our predictive capabilities will grow exponentially. We’ll be able to treat or overcome more diseases than we ever thought possible a generation ago.

Help forge the link between inspiration and discovery

Studies like Dr Cipponi’s aren’t funded overnight. Many ideas are in their early stages of development and struggle to find support. As Dr Cipponi says,

“Without the data, there is no funding. But without the funding, there’s no way to get the data.”

The New Projects Fund is designed to bridge that gap for ideas that don’t have grants yet. Any one of these ideas could be the key to new and more effective treatments that will improve survival rates for deadly diseases like cancer, and quality of life for Australians suffering from chronic diseases.

Your help will ensure work like Dr Cipponi’s has the chance to reach the next level of funding and make all our lives better.   

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