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The Gene Machine

Suddenly, this sophisticated piece of technology could map an entire genome in just two days. For researchers such as Professor Diane Fatkin, the Gene Machine has brought her closer than ever to research breakthroughs and answers for families.

Right now, Professor Fatkin is trying to find the genetic causes of dilated cardiomyopathy and atrial fibrillation.

The first is an inherited disorder that causes the heart to enlarge, leads to heart failure and even sudden cardiac death. It’s also the most common reason for a heart transplant.

The latter is the most common heart rhythm disorder that will affect one in four Aussies in their lifetime.

Until recently, the gene changes responsible for these types of heart diseases in the vast majority of patients remained elusive. But with access to the Gene Machine, this situation is changing rapidly, and more and more families are getting results. One of the big breakthroughs is finding that mutations in the giant titin gene are present in many families with dilated cardiomyopathy.

“This has major clinical implications because it means we can now test for titin mutations in our families in a clinical setting and find answers for one in four people, which is just amazing.”

And that’s exactly what she’s doing.

Stage two of her research is to sequence the DNA of more than 200 families with dilated cardiomyopathy or atrial fibrillation. It’s an enormous task, and one that would have previously taken years upon years to undertake.

But with the Gene Machine, her work is sped up. Professor Fatkin says genetic testing will allow specialists to pinpoint family members who carry gene mutations and target them for early treatment. It is hoped this may delay or stop the progression of the disease to heart failure.

“Genetic testing is now much more indicated as part of routine patient management for this disease, which it hasn’t been up until now,” she says. “The bottom line is a lot more patients and their families will get results.”

Such innovation is only possible through the collective generosity from people like you, who believe in our work as much as we do. From all of us at the Victor Chang Institute, thank you!

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