Women in Science - Prof Diane Fatkin
Diane's DNA - Hiking, Gardening and Molecular Genetics
On a quiet Saturday morning, Professor Diane Fatkin is elbow deep in mulch, tending to her garden after climbing a staggering 950 metres up Mt Solitary in the Blue Mountains. She is a long way from her world-leading laboratory that investigates how genes can cause heart disease in families.
9 September 2020
“I find a lot of inspiration from being in my garden and exploring the outdoors. The space helps my mind rest and allows me to think outside the box and consider new ways to approach problems. There’s a lot of science in gardening - understanding elements, mixing chemicals, finding balance.”
“We know every hiking trail in the Blue Mountains. My partner and I have systematically walked most of the trails in our area. You can’t help but be inspired by the wild Australian bush and we are always keen to cover new ground. It enriches our lives,” Diane explains.
From the valleys of the Blue Mountains to the snow-capped peaks of the Swiss Alps, it’s clear Diane feels most at home on a hiking trail and in the laboratory.
In the year 2000, Diane set up her first laboratory at the Victor Chang Cardiac Research Institute, under the guidance of Professor Bob Graham. According to Diane it was “the Golden Age of molecular genetics.” She had just completed her post-doctoral fellowship with globally renowned researchers, Professors Christine and Jon Seidman at Harvard Medical School. This dynamic husband and wife duo discovered the world’s first gene mutation for inherited heart disease - a pinnacle breakthrough that left Diane transfixed. “The Seidmans really drove me to see the power of genetics, the importance of understanding DNA and how this knowledge can ultimately improve the lives and outcomes of those living with chronic heart disease.”
"Like a good gardener, a scientist learns a lot from watching nature, from seeing what occurs naturally and using this knowledge to help solve problems. It’s a lot of trial and error before a breakthrough."
Originally a clinical cardiologist, she shifted to research, knowing her genetic studies could potentially benefit more patients than just those she had the time to treat. But it wasn’t her first career change. Diane also stepped away from medicine for two years to pursue a career in contemporary dancing.
“I adored the dancefloor but it was never a long-term option for me. I could see my career was very limited and whilst I could play a role in helping people enjoy the theatre, I had the opportunity to help more in the lab, my true passion.”
Twenty years on and Diane still leads a team of eight scientists who are committed to understanding how genetic mutations cause heart disease. And she is making headway too.
The Fatkin laboratory focuses on two of the most common types of inherited heart problems: dilated cardiomyopathy (DCM), which causes the heart to enlarge and weaken; and atrial fibrillation, an electrical problem with the heart. Both conditions can cause heart failure and stroke. Symptoms of dilated cardiomyopathy (DCM) often don’t develop until adulthood. Which means a baby born with the inherited condition can seem perfectly healthy until adult life. Heart function can deteriorate at any stage and result in heart failure.
“In the past, treating the disease once symptoms start has simply been too late. But if we could prevent the symptoms and the disease developing in the first place – well now that’s something really special. It’s even better than a cure.”
Diane is certain this is only possible through early genetic screening.
“We have reviewed the DNA of thousands of patients and found the exact genetic mutation that is causing disease in many families. It is incredibly valuable.
“We can now analyse the DNA of younger generations from these families and accurately predict who has an increased risk of developing disease in the future.”
Early detection of family members at risk will enable early treatment, reducing the severity of the disease and possibly even preventing onset altogether.”
Interestingly, it’s a tiny tropical fish called a zebrafish that’s helping Diane and her team uncover answers. Scientists study zebrafish because their hearts pump at a similar rate to humans, their embryos are transparent so scientists can see the inner workings of the heart, and their genetic make-up is surprisingly very similar to humans.
“In addition, we can look at the effects of the environment on heart disease, or see what medication and treatments work best. We even have echocardiograms and exercise testing we can conduct non-invasively on their tiny hearts, just like humans.”
It’s an incredible program providing valuable knowledge, but it requires critical funding to ensure its continued operation. That’s just one of the challenges the year ahead presents for Diane and her team, who are calling for additional support to continue their life-saving research.
“We would like to offer whole genome sequencing to more patients and their families but it’s enormously labor intensive. We need more staff to review data and more clinical hands to conduct testing on patients.”
When asked what her ultimate dream would be if she had deeper pockets, her eyes light up. “We envisage a future where all patients have their entire genetic make-up analysed and we can study genetic mutations in the laboratory using a 3D-cardiac organoid.”
In other words, Diane wants to study genetics in a miniature, human heart that’s living and breathing in a petri dish. It’s not a futuristic fantasy – the technology already exists and Diane is once again transfixed.
As for Diane’s garden, like her laboratory, with hard work it will continue to flourish.
Acknowledgement of Country
The Victor Chang Cardiac Research Institute acknowledges Traditional Owners of Country throughout Australia and recognises the continuing connection to lands, waters and communities. We pay our respect to Aboriginal and Torres Strait Islander cultures; and to Elders past and present.
