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June 2018 | Published by RCPA

Issue #081

Landmark funding gives hope of a cure for young people with genetic heart disease

Landmark funding gives hope of a cure for young people with genetic heart disease

Professor Chris Semsarian is an internationally renowned cardiologist and scientist studying genetic heart disease and sudden death, and the management of individuals and families with, or at risk of, inherited cardiac disorders. He is the Director of the Genetic Heart Disease and Hypertrophic Cardiomyopathy Clinic at Royal Prince Alfred Hospital, Sydney, and Director of the Australian Genetic Heart Disease Registry.

Professor Semsarian also became an Honorary Fellow of the Royal College of Pathologists of Australasia (RCPA) in 2017, acknowledging two of his ground-breaking studies into sudden cardiac death in the young across Australia and New Zealand. This prestigious RCPA award recognised Professor Semsarian’s important work as a clinician and researcher working in close collaboration with forensic and other pathologists, with the ultimate goal of preventing sudden cardiac death in our communities. Professor Semsarian has also presented at Pathology Update in 2006, 2009, 2011, 2014 and 2017 in both the forensic and genetic pathology scientific streams.

Following recent funding announcements for cardiology research in New South Wales, we spoke to him about what this means for research and areas of innovation in this field.

Professor Semsarian says,

“In order to do research we need funding, and without research we really have no answers. Research is absolutely vital if we’re going to improve the management and diagnosis, and hopefully prevent the occurrence, of cardiovascular disease in our communities. There have been two big announcements for funding in cardiovascular research recently: The Heart Foundation[1] and the NSW Government[2].

“My research is in the area of young people with heart disease. This area of cardiology is not in relation to coronary heart disease, blood pressure, smoking or cholesterol, but in young people who have a fault in a gene that they’re born with that leads to heart conditions, such as cardiomyopathy and rhythm problems of the heart.

“A particular complication of all of those genetic heart diseases is sudden death. This tends to be the young person that goes onto a soccer field, basketball court or rugby field and dies suddenly or is found deceased at home. The Heart Foundation and other organisations have helped us to fund a lot of the research we do, which looks at identifying why young people die suddenly.

“Specifically, The Heart Foundation has supported a study where we’ve looked at sudden deaths across all of Australia and New Zealand. Of the many findings, there are two key aspects. Firstly, for approximately 40% of young people who die suddenly in Australia and New Zealand under the age of 35, no cause is found after a post mortem examination. The second aspect is that we can now do a molecular autopsy, where we can take a blood sample from the post mortem of the individual who died suddenly and unexpectedly (where nothing was found at post mortem), and do a whole genetic profile to see if there was a faulty gene that caused the sudden death,” says Professor Semsarian.

Genetic testing is a growing discipline which diagnoses genetic diseases by overseeing the testing of patient samples for mutations. Genetic testing is available to identify the cause of a family’s heart disease and can also help to determine which specific relatives are at risk of developing this condition for which pathology testing is integral.

“The benefit of that is, firstly, it gives the parents a bit of closure as to why their son or daughter died suddenly, but secondly, and very excitingly, we can use that genetic information for other relatives in the family – other children, siblings, parents and cousins. If we identify someone at risk who is carrying these gene abnormalities, we can do a lot of things to stop people from dying suddenly. So it’s a very proactive process. I guess that’s one example of where the research funding that’s been announced by the Heart Foundation is helping us to do projects like this - to investigate why young people die suddenly.

“No project that we ever do in research is solely funded by one organisation because it’s just too expensive. The Heart Foundation funds a particular aspect of the study. The current funding was related to following up with these families over time to see how many develop diagnoses, how many sudden deaths were prevented in the family relatives, that sort of thing.

“In addition, I was recently part of the NSW Government’s $150 million initiative². I was part of a team that lobbied the government for 18 months. They announced that the new funding aims to reduce the number of Australians dying from heart disease over the next decade. The NSW Government Premier Gladys Berejiklian, Treasurer Dominic Perrottet and Health Minister Brad Hazzard announced the landmark funding in the NSW Budget 2018,” says Professor Semsarian.

At the time of the announcement, Premier Gladys Berejiklian said,

“Heart disease remains Australia’s number one killer but with greater investment, researchers can predict, prevent and treat it more accurately.”

Professor Semsarian says, “This input of $150 million over 10 years, specifically into cardiovascular disease in New South Wales, will be broken down into funding for actual research, but also for people for fellowship funding - for young career researchers who often struggle to get their fellowship. It will bring bright and talented people back to New South Wales so we can make New South Wales the premier state in terms of cardiovascular research. To my knowledge, this is the biggest injection of research funds ever at a government level, specifically into cardiovascular research.”

“It’s calculated that every 12 minutes one Australian dies of cardiovascular disease, which is a horrific statistic - one death every 12 minutes. In the genetic heart diseases that lead to a heart condition, it occurs in up to 1 in 200 people, so it’s quite a common occurrence. One in three Australians have evidence of heart disease,” says Professor Semsarian.

“There are some big issues in cardiovascular disease at the moment. The obvious ones are things like the obesity and diabetes epidemic and coronary artery disease, but there’s also a lack of emphasis on younger people with heart disease, such as genetic heart diseases and congenital heart disease, when babies are born with a holes in the heart or with half a heart. This funding will cover everything from birth onwards.

“We know that these genetic heart diseases are caused by a mistake in a gene. For the heart gene that has a mistake in it, we now have technologies called genome editing, or the other term is CRISPR. This technology provides the ability to correct the genetic mistake and essentially cure disease.”

CRISPR (Clustered Regularity Interspaced Short Palindromic Repeats) technology is a powerful tool for editing genomes, allowing researchers to alter DNA sequences and modify gene function. Professor Semsarian has been working with this technology to find potential treatment and cures for heart disease.

“At this stage, we’ve done most of our work in a dish, so we’ve corrected the disease in heart cells that have a genetic mutation. We’ve used CRISPR and returned the gene back to normal so it’s a bit like a spellcheck autocorrect scenario. We’ve done it in cells in a dish but the obvious challenge is how we do it in a human. I think research gives hope to patients that one day there will be not just better treatment but, in this instance, potential cures. To me, probably the biggest, most exciting thing is genetic editing in order to correct genetic mutations that kids are born with,” says Professor Semsarian.


[1] https://www.heartfoundation.org.au/news/3.8-million-boost-to-heart-disease-research-in-nsw

[2] http://www.health.nsw.gov.au/news/Pages/20180603_00.aspx




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