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Centenary Institute - Medical Research
Centenary Institute - Medical Research

Sydney Innovation and Research Symposium

Associate Professor Jodie Ingles, Head of Centenary Institute’s Clinical Cardiac Genetics Laboratory, in the Molecular Cardiology Program has made good use of her public speaking skills, presenting a talk on the impacts and consequences of cardiac genetic testing, as well as participating in the ‘Great Debate’ at today’s annual Sydney Innovation and Research Symposium.

Debating the topic, “Clinical systems and processes are more important than experience,” Jodie, a part of a team of three, successfully argued against the motion.

“My argument was that in 15 plus years of working with families with inherited heart diseases, that systems and processes have not existed, and so if we are to do the best we can for these families we need to carve our own path. We’ve done this always based on our significant experience in seeing so many families, and we use these experiences to help inform development of guidelines,” said Jodie.

The annual Symposium is Sydney Local Health District’s hallmark event to foster collaboration and innovation bringing together staff, clinicians, research and business partners, and industry experts to share ideas to help achieve excellence in health and healthcare for all.

Study reveals technology role in over-diagnosis of rare inherited heart disease

A new study led by Centenary’s Professor Chris Semsarian AM and Samantha Barrett-Ross from our Molecular Cardiology Program reveals the critical need for greater understanding into diagnosis of little known inherited heart disease.

In collaboration with Wiser Healthcare, Royal Prince Alfred Hospital and the University of Sydney, the study published today in the highest ranking international cardiovascular journal – European Heart Journal, has shown that the use of advanced imaging equipment is driving a significant increase in the diagnosis of a little known inherited heart disease in adults.

In a comprehensive systematic review of 55 studies of Left Ventricular Non-Compaction (LVNC), a rare form of heart disease, the authors of the study have found that an older heart test, echocardiography (which uses ultrasound) diagnosed the condition in 1% of hospital patients and healthy adults. But using a new cardiac MRI test, 15% of adults were reported to have the condition. In some studies, it was much higher, up to 40%, even in studies of large samples of well people.

Professor Semsarian, Head of Centenary’s Molecular Cardiology Program and a leading cardiologist at Royal Prince Alfred Hospital, says, “Finding evidence of heart disease in up to 40% of well adults raises significant questions. Many of the studies were done on well people with no symptoms or signs of heart disease, yet the cardiac MRI showed these abnormal results at alarming levels. This raises questions about the clinical utility of this particular diagnosis. It raises wider concerns too. For example, how should results from new, very sensitive tests be interpreted?”. The study highlights the impact of new technology on what appears to be massive over-diagnosis of the disease. It also provides new insights and guidance on more consistent and accurate diagnosis of LVNC in adults, to enable a reduction in the number of healthy people undergoing the stress of misdiagnosis, and cost and trauma of unnecessary treatment.


Radio Interview

Listen to the ABC RN Health Report interview with Centenary’s Professor Chris Semsarian AM and Samantha Barrett-Ross from our Molecular Cardiology Program.


Read the full media release.

See the published article in the European Heart Journal.

Spirit of a community raising funds to help save lives

Pictured above: The Melonheads Team which is made up of family and friends of Aaiden Bellingham. Earlier this year they all competed and raised funds in the annual Bellingham Cup (Melonhead was a nickname given to Aaiden by his Pop). 

Centenary’s Molecular Cardiology Program led by Professor Chris Semsarian AM, extend a huge thank you to all those involved with the recent Bellingham Cup held in honour of Aaiden Bellingham – a much loved young man who was sadly taken from his family and friends as a result of a sudden cardiac episode.

Our thoughts are always with Aaiden’s family and his friends and the Bellingham Cup is a not only a wonderful tribute to Aaiden, but an invaluable way to spread the word about the importance of medical research in the area of sudden cardiac death in the young.

Special mentions to Adrian, Aaiden’s dad for his drive and determination to raise awareness and funds for the Centenary Institute. To the UC Pumas FC and all from the Club who were involved with the event and the SES Belconnen Unit for enabling the Cup’s outstanding success.

On behalf of the Bellingham Cup and Centenary, a thank you to some of the supporters who contributed to the success of the day ACT Cancer Council, Gatorade, Bunnings Belconnen and Mars Wrigley.

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The photographs of the event enable us to share with all our followers and supporters the spirit of the Bellingham Cup.

Congratulations to all involved. Thank you for the much needed funds raised from the Cup and we look forward to the 2020 event.

Read more about the Molecular Cardiology Program.

Associate Professor Jodie Ingles awarded NHMRC honour

Associate Professor Ingles has been awarded the highest-ranked NHMRC Career Development Fellowship in the Clinical Level 1 Category for her research, which focuses on better understanding the clinical, genetic and psychosocial aspects of inherited heart diseases.

Associate Professor Ingles is Head of the Clinical Cardiac Genetics Group in the Agnes Ginges Centre for Molecular Cardiology at Centenary. She is an Associate Professor in the Faculty of Medicine and Health, The University of Sydney, and cardiac genetic counsellor in the Department of Cardiology, Royal Prince Alfred Hospital, Sydney.

NHMRC Career Development Fellowships are incredibly competitive, with a success rate of just 13 per cent. Associate Professor Ingles says she feels incredibly privileged to have not only received a Fellowship, but to also have achieved the highest-ranking in her category.

“It’s like winning a ‘Golden Ticket’. Having this on my track record will hopefully place me in an even stronger position when I apply for grants and funding in future, which is the only way you can succeed as a medical researcher,” says Associate Professor Ingles.

Read the full media release here.

Learn more about Associate Professor Ingles’ research here.

Building the case for a closer look at known heart-disease genes

Centenary Institute scientists have conducted a study which could change how researchers discover the causes of genetic heart disease.

At the moment, the bulk of genetic testing focuses on the protein-coding sections of DNA to look for disease-causing variants. However, these protein-coding regions only make up about two-per-cent of our entire DNA sequence.

In a study published in scientific journal Circulation: Genomic and Precision Medicine, researchers in Centenary’s Molecular Cardiology Program screened 500 families affected by hypertrophic cardiomyopathy – a common genetic heart condition which occurs when the heart muscle thickens, making it difficult to pump blood.

The researchers focused on one of the main disease-causing genes, known as MYBPC3, and discovered they were able to attribute the cause of hypertrophic cardiomyopathy in four families to a variant found in the non-coding region of the DNA.

First-time Lead Author Emma Singer says while on the surface, it may appear to be a small breakthrough, it’s still important for patients affected by genetic heart disease.

“This study makes a major difference for those four families who otherwise would not have known the cause of their heart condition, which in some cases, can be fatal,” says Emma.

Senior Researcher Dr Richard Bagnall is hopeful the study will help re-direct the broader focus of genetic heart disease research.

“We would consider this a pilot study, so we are hoping our results will encourage other researchers to undertake a similar approach in larger cohorts of patients with other known disease-causing genes.

 “This study demonstrates why we need to be looking at the known genes more closely and more carefully – because we’re finding that we’re having a lot more success that way, rather than trying to find a new gene altogether that causes disease.”

Key value of RNA analysis of MYBPC3 splice site variants in hypertrophic cardiomyopathy has been published in the scientific journal Circulation: Genomic and Precision Medicine.

View the full media release as a PDF.

Learn more about Centenary’s Molecular Cardiology Program.

Federal Government recognises Centenary excellence

Three researchers from the Centenary Institute have been awarded grants under a $200 million scheme developed by the Federal Government’s National Health and Medical Research Council (NHMRC). The process is highly-competitive, with only 320 medical research projects nationwide achieving success.

Head of Centenary’s Molecular Cardiology Program and Royal Prince Alfred Hospital Cardiologist, Professor Chris Semsarian, has been awarded a Practitioner Fellowship, which will include $585,000 in funding for five years from 2019.

Professor Semsarian is working to identify new genes in families with inherited heart disease and sudden cardiac death by using state-of-the-art whole genome sequencing, with the aim of improving patient care and outcomes.

“It is a tremendous honour to receive such a prestigious award, which recognises the wonderful and dedicated researchers in my team. We are all united by the ultimate goal to improve the care of our families with life-threatening inherited heart diseases,” says Professor Semsarian.

Dr Jodie Ingles, Head of Centenary’s Clinical Cardiac Genetics Group in the Molecular Cardiology Program, has been awarded a Career Development Fellowship from 2019-2022 worth $437,000.

Dr Ingles’ ongoing research is focused on improving our understanding about how genetics influences heart disease, how to better provide psychological support to families after sudden cardiac death in the young, and developing tools to help patients make more informed decisions about their care.

While Professor Warwick Britton, Head of Centenary’s Tuberculosis Research Program, has been awarded nearly $2.5 million to fund a new Centre for Research Excellence in Tuberculosis Control on both sides of our border (TB-CRE).

Tuberculosis is currently the deadliest infectious disease worldwide, with about 1.7 million deaths in 2016. The fresh funding by the NHMRC will allow a core group of Australian researchers to continue working towards controlling the disease not just domestically, but within our region.

“This CRE is important in forging the collaborative research and training that is essential to reach the WHO goals of improved tuberculosis control,” says Professor Britton.

See the full list of projects funded by the latest round of NHMRC Grants here.

A game-changing discovery in diagnosing genetic heart disease

Scientists at the Centenary Institute and Royal Prince Alfred Hospital have used state-of-the-art technology to significantly improve the diagnosis rate of a potentially deadly heart condition by up to 20 per cent.

Hypertrophic cardiomyopathy is a common genetic heart condition, which can affect both men and women at any age. It occurs when the heart muscle thickens – making it difficult for the heart to pump blood, and in some cases, results in sudden cardiac death.

Funded by NSW Health, Centenary scientists have used whole genome sequencing to explore hypertrophic cardiomyopathy in 58 Australian families, who are directly affected by the disease. Whole genome sequencing allowed the scientists to look at regions of patients’ genes which were previously not considered important.

Senior Researcher for Centenary Institute’s Molecular Cardiology Program and the University of Sydney, Dr Richard Bagnall is lead author of the paper, and believes it’s a game-changer in the field.

“This study shows we can use this incredible technology to diagnose hypertrophic cardiomyopathy in 2-out-of-10 more families. But there is a lot more information within those whole genomes we haven’t even had a look at yet, so this is really just scraping the surface of what’s possible,” Dr Bagnall said.

Head of Centenary’s Molecular Cardiology Program, Royal Prince Alfred Hospital cardiologist and University of Sydney Professor Chris Semsarian AM, has led the study, which he describes as a much more robust approach to genetic diagnosis in cardiomyopathy.

“This is precision medicine – finding the exact genetic change which is leading to disease in individual patients. The next step is to then link those genetic changes with the clinical features of these patients,” Professor Semsarian said

Read the full media release

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