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Centenary Institute - Medical Research
Centenary Institute - Medical Research

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.

Four Centenary researchers awarded NHMRC grants

Pictured: Dr Jacob Qi, Dr Renjing Liu and Professor Phil Hansbro.

The Centenary Institute would like to congratulate four of our researchers on securing funding under the Federal Government’s highly-competitive National Health and Medical Research Council’s (NHMRC) scheme.

Professor Phil Hansbro, Head of Centenary’s Centre for Inflammation, has been awarded a four-year Project Grant. His team will use the funding to develop new therapies for chronic obstructive pulmonary disease (COPD) – the third leading cause of death worldwide.

Dr Renjing Liu, Head of the Agnes Ginges Laboratory for Diseases of the Aorta in Centenary’s Vascular Biology Program, has been awarded two NHMRC project grants starting in 2019 to explore the role of epigenetics in cardiovascular diseases.

“Collaboration is key to successful research. The funding from NHMRC will allow me to continue my collaborations with leading researchers both nationally and abroad because improving human health is a global effort. It will also allow me to build a strong team to see that our work will contribute to increased understanding of biology and diseases, and add to making a difference in people’s lives,” says Dr Liu.

Dr Jacob Qi, also from Centenary’s Vascular Biology Program, has been awarded a three-year grant, which he will use to bolster his research into discovering the metabolic basis of non-alcoholic fatty liver disease progression to liver disease.

Dr Gerard Chu from Centenary’s Gene and Stem Cell Therapy Program, has been awarded a three-year Postgraduate Scholarship grant. Dr Chu’s research is focused on analysing the immune response and optimising the effectiveness of Mesothelin CAR T-Cell therapy in cancer.

Earlier this year, Centenary’s Professor Chris Semsarian, Associate Professor Jodie Ingles and Professor Warwick Britton were also awarded funding from the NHMRC. Read more about those grants here.

Centenary genetic counsellor delivers prestigious lecture

Pictured: Dr Jodie Ingles holding her award recognising her 2018 Janus Lecture. (Credit: Laura Yeates)

Dr Jodie Ingles has delivered the prestigious plenary Janus Lecture at the American National Society of Genetic Counselors (NSGC) annual conference in Atlanta, Georgia (US).

Dr Ingles is Head of the Clinical Cardiac Genetics Laboratory in Centenary’s Molecular Cardiology Program.

According to the NSGC, the Janus Lecture is “named after the ancient Roman god, Janus, who is said to have been depicted with two faces, one looking to the past and one to the future.”

Dr Ingles was selected from a nomination process to present this year’s Janus Lecture, in which she spoke about the past and future of genetic counselling in relation to inherited heart disease, with an emphasis on research-based care.

The 2018 NSGC conference was attended by about 2,500 genetic counsellors from all around the world.

Fellow Centenary genetic counsellor Laura Yeates also delivered a presentation, in which she spoke about their qualitative study on preimplantation genetic diagnosis experience in inherited heart disease families.

Read more about the role of Centenary’s genetic counsellors.

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