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Centenary Institute - Medical Research
Centenary Institute - Medical Research

MJA Podcasts: Sudden cardiac death in athletes with Dr Jessica Orchard

Dr Jessica Orchard, a Centenary Institute researcher at the Agnes Ginges Centre for Molecular Cardiology and a Heart Foundation Postdoctoral Fellow, has been interviewed for the latest Medical Journal of Australia (MJA) podcast.

In the podcast, Dr Orchard discusses sudden cardiac death in athletes–how to screen for it, prepare for it, treat it and, ultimately, hopefully prevent it.

She says that around 1.3 people per 100,000 in Australia, under the age of 35, die from sudden cardiac arrest each year. The majority of these cases have a genetic component or cause.

“We need more data on sudden cardiac arrest in young people generally, to be able to better anticipate and prevent these deaths from taking place. Genetic research is an important part of the overall picture to give us that knowledge,” says Dr Orchard.

Listen to the podcast directly from the MJA website.

You can find out more here about the Centenary Institute’s Agnes Ginges Centre for Molecular Cardiology and its world-leading research into better understanding – and treating and preventing – sudden cardiac death in young people.

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Prestigious grants success for Centenary Institute researchers

World-leading research into sudden cardiac death (SCD) in young people and multiple sclerosis has been boosted with two Centenary Institute researchers successfully securing prestigious Ideas Grants in the latest round of National Health and Medical Research Council (NHMRC) funding.

Professor Christopher Semsarian AM, Head of the Centenary Institute’s Agnes Ginges Centre for Molecular Cardiology, has received funding of $1.17 million for a three year study into the role of ‘concealed cardiomyopathies’ (diseases of the heart muscle) and SCD in the young (those people aged 35 years and under).

He believes that a significant proportion of unexplained sudden cardiac arrest (SCA) and SCD in the young is due to underlying genetic conditions, representing a preclinical concealed phase of disease.

“I hope to be able to better identify the precise genetic causes of SCD and SCA, with a focus on cardiomyopathy genes, using innovative state-of-the-art genomic technologies. This will enable more targeted clinical and genetic evaluation of at-risk families, resulting in earlier diagnosis of vulnerable family relatives, and appropriate initiation of treatment and prevention strategies. The ultimate goal is to prevent serious cardiac events and SCD in the young,” said Professor Semsarian.

Associate Professor Anthony Don, Head of the Lipid Metabolism and Neurochemistry Laboratory at the Centenary Institute has received funding of $925,000 for a four year study investigating drug-development opportunities for the treatment of multiple sclerosis (MS). The disease is caused by the immune system mistakenly attacking and depleting myelin, the fatty substance that insulates neurons in the nervous system.

“While we can effectively arrest the inflammatory component in many people with MS, the goal of functional recovery is hindered by our inability to stimulate myelin repair. This is the current frontier of MS research,” said Associate Professor Don.

“I’ll be exploring how the loss of certain key biochemical signals promotes myelin loss in MS, and how drugs that restore those signals may be used to protect and regenerate myelin in people with this disease.”

Professor Mathew Vadas AO, Executive Director at the Centenary Institute, welcomed the announcement.

“NHMRC Ideas Grants are highly competitive and support innovative health and medical research projects. This is an outstanding result for two superb projects. I look forward to further grant success from Institute researchers in future rounds.”

Sydney Morning Herald features Centenary cardiac research

Research from the Centenary Institute showing that genetic testing can help identify the cause of sudden cardiac arrest (SCA) in young people who seem to have a normal heart has been featured in the Sydney Morning Herald.

“These are young people – some in their teens and 20s – who on a particular day had a cardiac arrest and for so long we didn’t know what the reason was,” said Professor Chris Semsarian AM, Head of the Centenary Institute’s Agnes Ginges Centre for Molecular Cardiology and senior author on the research study.

“You can do every test under the sun and you don’t find anything wrong with their heart. It looks normal, but it carries genetic mistakes.”

In their study, the Centenary researchers identified a genetic cause of arrest in 22% of the SCA survivors examined. The majority of these newly identified cases had genetic abnormalities associated with cardiomyopathy.

Dr Julia Isbister also from the Centenary Institute’s Agnes Ginges Centre for Molecular Cardiology said, “What we have seen here is that there is perhaps more utility for patients with no clinically identified causes to have genetic testing, now that our knowledge of cardiac arrest and genetics has advanced and we can cast a wide [genetic testing] net to get answers for patients.”

Read the full SMH news story here.

Find out more about Professor Semsarian’s research program at the Centenary Institute here.

Concealed cardiomyopathies revealed in cardiac arrest survivors

Centenary Institute researchers have discovered that genetic testing can identify ‘concealed cardiomyopathies’ in nearly a quarter of sudden cardiac arrest (SCA) survivors who seem to have a normal heart.

The findings will mean improved diagnosis rates and personalised care for SCA survivors as well as guide the screening of family members who may have the same underlying genetic condition.

The study, reported in the ‘International Journal of Cardiology’, undertook genetic testing and analysis of clinically-idiopathic SCA survivors (individuals where previous clinical investigations had failed to reveal a diagnosis).

The researchers identified a genetic cause of arrest in 22% of the SCA survivors studied. The majority of these newly identified cases had genetic abnormalities associated with cardiomyopathy.

“Cardiomyopathies are diseases of heart muscle. They can impair the heart’s ability to pump blood around the body, leading to heart failure but can also cause electrical changes which can lead to dangerous heart rhythms,” said lead author of the study, Dr Julia Isbister from the Centenary Institute’s Agnes Ginges Centre for Molecular Cardiology.

“These conditions are usually detected on clinical tests such as ultrasound but our findings show that state-of-the-art genetic testing may be useful in revealing cardiomyopathy before structural abnormalities are evident.”

Dr Isbister says that identifying the reason for a SCA is critical for both patients and their families.

“If the specific disease can be diagnosed we are better able to implement personalised care for the survivor. If we discover that the SCA is genetically-based we can then screen family members for similar issues. Screening of first-degree relatives is an extremely important aspect of caring for SCA families, aiming to reduce the risk of further cardiac arrests in the family,” said Dr Isbister.

Professor Christopher Semsarian AM, Head of the Centenary Institute’s Agnes Ginges Centre for Molecular Cardiology and senior author on the study says that the role of genetic testing in the management of SCA survivors requires reappraisal given the results of the team’s findings.

“Current guidelines recommend only limited genetic testing of SCA survivors when a specific genetic condition is already suspected. Genetic testing is not generally recommended for those survivors classified as clinically ‘unknown’,” he said.

“Our study has shown that advances in genetic testing technology and analysis can improve diagnosis rates by revealing heart defects that were previously hidden. A reassessment of guidelines and increased genetic testing may lead to better outcomes for survivors, their families and overall prevention of sudden cardiac death in the young.”

Publication: “Concealed cardiomyopathy” as a cause of previously unexplained sudden cardiac arrest.

Cardiovascular research excellence recognised

Four scientists from the Centenary Institute have had their world-leading research recognised by being awarded prestigious NSW Cardiovascular Research Capacity Building Grants. The grants will help drive the scientists work focused on improving the health of patients with heart and cardiovascular conditions.

“Cardiovascular disease is a leading cause of death and disability in Australia. We need to continue to accelerate our research efforts in this critical health area to develop new and innovative treatments and to improve the heart health of all Australians,” says Professor Mathew Vadas AO, Executive Director at the Centenary Institute.

“Accordingly, these grants are an excellent outcome, both for our scientists who are operating at the very forefront of their research fields, as well as for the wider community who will ultimately benefit from the life-changing medical research being undertaken,” he says.

Successful Centenary Institute scientists and their research are (pictured top left to right):

Professor Philip Hogg. Centenary Institute (ACRF Centenary Cancer Research Centre) and University of Sydney. Awarded a Cardiovascular Senior Researcher Grant. Redefining protein function in thrombosis: Implications for pro-thrombotic states and anti-thrombotic drug resistance in patients with cardiovascular disease.

Dr Paul Coleman. Centenary Institute (Vascular Biology Program), Heart Research Institute and University of Sydney. Awarded a Cardiovascular Early-Mid Career Researcher Grant. Redox control of VWF processing and activity during thrombotic diseases.

Dr Renjing Liu. Centenary Institute (Vascular Biology Program) and University of Sydney. Awarded a Cardiovascular Early-Mid Career Researcher Grant. Targeting Tet2 as a therapy for vascular calcification.

Dr Yanfei (Jacob) Qi. Centenary Institute (Vascular Biology Program) and University of Sydney. Awarded a Cardiovascular Early-Mid Career Researcher Grant. Targeting blood vessel cells to treat atherosclerosis.

The NSW Cardiovascular Disease Research Capacity Building Program and its grants are a NSW Government initiative aiming to drive discoveries that allow researchers to find ways to better diagnose, treat and prevent cardiovascular disease, improving the health and wellbeing of people living in NSW.

Read the full media release here.

New Centenary Institute laboratory launched

The Centenary Institute has officially launched its newest initiative, ‘The David Richmond Laboratory for Cardiovascular Development: Gene Regulation and Editing’ headed up by Associate Professor Mathias Francois (pictured).

A/Prof Francois and his team will be focused on identifying new and innovative therapeutic approaches targeting vascular disease (any abnormal condition relating to arteries, capillaries, veins and lymphatic vessels). Abnormalities in the growth and development of these vessels are associated with human disorders including cardiovascular illness, solid cancer metastasis and inflammatory diseases.

With many of these diseases and disorders having a genetic cause, the team will be looking to determine the molecular events that direct and influence the construction of the ‘vascular tree’ (the network of blood and lymph vessels throughout the body). The aim will be the identification of molecular targets to which novel therapeutics can be first assessed and then generated.

The main focus of the research program will revolve around the biology of a class of protein known as transcription factors (TFs). These proteins act as molecular switches or as the control panel of the genome to turn on and off genetic pathways which drive vascular development.

Until recently TFs were labelled as “undruggable” but recent technology advances have opened up new research directions to efficiently manipulate these targets pharmacologically. The long term goal is to design new treatments that fine-tune gene expression to improve the management of vascular disorders.

Undertaking a highly strategic methodology to this activity, the new laboratory’s research program will be multi-disciplinary in nature, encompassing developmental biology, disease model systems, complemented by biophysics and genomics approaches.

“I’m extremely excited to be joining such a well-regarded and thriving organisation as the Centenary Institute,” says A/Prof Francois. “The appeal of this institution is in the versatility of the research capabilities provided by such world-class scientists.”

“Working in a new research environment with new colleagues from complementary research fields will mean new ideas and more opportunities to think out of the box. This process is  critical to translate knowledge generated from discovery science to more applied vascular research, which hopefully will lead into meaningful treatments that have the potential to change lives,” he says.

Centenary researchers receive cardiovascular disease grants totalling $2.25m

Three Centenary Institute researchers based in Sydney have been awarded grants totalling $2.25m that will help support the diagnosis, treatment and prevention of cardiovascular disease.

The highly competitive grants, from the first round of the NSW Cardiovascular Disease Research Capacity Building Program, were awarded to Centenary Institute’s Professor Christopher Semsarian (left), Professor Jennifer Gamble and Dr Richard Bagnall (right).

Professor Christopher Semsarian, awarded a ‘Cardiovascular Disease Clinician Scientist Grant’ was happy to receive the funding, noting that the grant would support his research into identifying new genetic causes of inherited heart diseases, including that of sudden cardiac death (SCD) in the young.

“We want to find the underlying molecular mechanisms responsible for these life-threatening heart diseases, to provide answers to families as to why their child died suddenly and how can we help prevent these inherited heart diseases from claiming other family members as well as individuals from across the wider community,” he said.

Professor Jennifer Gamble, who was awarded a ‘Cardiovascular Disease Senior Scientist Grant’ will use her funding to explore molecular changes in endothelial cells as they undergo cellular ageing.

“Endothelial cells line blood vessels and changes in their function and structure can result in leaky blood vessels and a chronic inflammatory state,” said Prof Gamble. “These changes contribute to the initiation and progression of age-associated disease including cardiovascular disease. We need to find out what’s happening with these cells at a deeper level as an essential first step to developing potential new therapeutics.”

Dr Richard Bagnall who also received a ‘Cardiovascular Disease Senior Scientist Grant’, will use the funding to support his molecular biology and bioinformatics work into developing improved genetic testing for inherited heart diseases.

“High volumes of DNA sequencing data can now be generated, but it requires sophisticated software and computers to make sense of all that information,” said Dr Bagnall. “I’ll be undertaking a computational analysis of gene sequencing, followed up by laboratory analysis, so that we can precisely identify specific cardiovascular diseases, aiding future diagnostic and treatment approaches.”

Read the full media release here.

NSW Health Article: Professor Chris Semsarian

Professor Chris Semsarian, Head of Centenary Institute’s ‘Molecular Cardiology Program’ is featured in a NSW Health article. It highlights the advanced work that is being undertaken by researchers to better understand the heart and to treat cardiovascular disease.

Work by Professor Semsarian has shown that sudden cardiac deaths in young people are often due to genetic or inherited defects. His focus is on using genetic information to improve diagnosis, to initiate prevention and treatment strategies early in life and to help improve prognosis.

You can read more about Professor Semsarian, what inspires him as well as activities from other leading cardiologists here: https://www.medicalresearch.nsw.gov.au/scientists-solving-mysteries-of-the-heart/

Prestigious journal role for Centenary Deputy Director

Centenary Institute’s Professor Chris Semsarian, Deputy Director and Head of the Molecular Cardiology Program, has been invited to be the new editor-in-chief of the prestigious science journal ‘Circulation: Genomic and Precision Medicine’.

“I’m excited to take on the editorship of the leading cardiovascular genomics journal in the world, at a time when there are phenomenal advances in genomics and precision medicine approaches,” Prof Semsarian said.

“My vision is for the journal to be the ’go-to‘ journal for the latest, state-of-the-art research studies in the field of cardiovascular genomics and precision medicine, with an expanding readership to encompass more general cardiologists, geneticists and other allied health professionals.”

More information on the appointment can be found here.

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.