Program Details

A copy of the Conference Handbook can be downloaded here.

PROGRAM - DAY 1 - Thursday 24th May 2018

Session 1: Opening Session

Chairs: John Atherton, Julie McGaughran

Time Talk Title  Speaker
0800-0815 Welcome John Atherton and Julie McGaughran,
Conference Co-Convenors
0815-0830 Official Opening  Prof. Keith McNeil, Assistant Deputy Director-General and Chief Clinical Information Officer, Clinical Excellence Division, Department of Health
0830-0900 CV Genetics in Australia Chris Semsarian (NSW)
0900-0930 Latest in genetic testing for LQTS Michael J. Ackerman (USA)
0930-1000 Can some cardiomyopathies be channelopathies? Iacopo Olivotto (Italy)
1000-1030 Morning Break  

Session 2: Clinical genetics of inherited cardiomyopathies

Session sponsored by: PA Researc Foundation

Chairs: Jitendra Vohra and William Wang
Time Talk Title Speaker
1030-1050 Clinical features of inherited cardiomyopathies Chris Semsarian (NSW)

Actionability of genetic testing in HCM


Iacopo Olivotto (Italy)
1105-1125 Nonfamilial cardiomyopathies Jodie Ingles (NSW)
1125-1140 TTN truncating variants in DCM Diane Fatkin (NSW)
1140-1155 Whole genomes, exomes or panels? Richard Bagnall (NSW)

Session 3: Familial Hypercholesterolaemia


Chairs: Christian Hamilton-Craig and Gerald Watts
Time Talk Title Speaker 
1030-1045 Update on the value of genetic testing for FH David Sullivan (NSW)

The Evolving Model of Care for FH including novel drug therapies

Gerald Watts (WA)
1115-1130 Is Lp(a) ready for prime time use in the clinics? Karam Kostner (QLD)
1130-1145 New registry platforms for genetic  lipid disorders Matt Bellgard (QLD)
1200-1330 Lunch  

Session 4: What's new in inherited arrhythmia syndromes?


Chairs: Hariharan Raju and Julie McGaughran
Time Talk Title Speaker
1330-1350 Current state of genetic testing for Brugada syndrome Michael J. Ackerman (USA)
1350-1410 The New Zealand experience of LQTS genetic testing Jonathan Skinner (NZ)
1410-1430 CPVT and other arrhythmia disorders Andreas Pflaumer (VIC)
1430-1450 Computational modelling in inherited arrhythmia syndromes Jamie Vandenberg (NSW)
Session 5: Clinical, Genetic and Functional Aspects of Congenital Heart Disease
Chairs: David Winlaw and Jim Morwood
Time Talk Title Speaker
1330-1400 Update in congenital heart disease David Winlaw (NSW)

Whole genome approaches to congenital heart disease


Eleni Giannoulatou (NSW)
1415-1430 Genetic counselling for complex inherited diseases Gillian Blue (NSW)
1430-1445 iPSC models of congenital heart disease James Hudson (QLD)
1445-1500 Zebrafish models of congenital heart disease Kelly Smith (QLD)
1500-1530 Afternoon Break  
Session 6: Determining Pathogenicity and Genotype-Phenotype Correlation

Chairs: Paul James and Chris Semsarian

Time Talk Title Speaker
1530-1550 Key determinants of pathogenicity Peter van Tintelen (Netherlands)
1550-1605 Gene reporting from the laboratory perspective Michael Fietz (WA)
1605-1620 The perspective of the clinical geneticist Eric Haan (SA)
1620-1640 Issues of discordance: the ClinGen experience Jodie Ingles (NSW)
1640-1655 An approach to reclassification Hamish Scott (SA)
Conference Dinner
1900-2330 Conference Dinner, Level 12 Rooftop, Rydges South Bank Brisbane  



PROGRAM - DAY 2 - Friday 25th May 2018

Sanofi Genzyme Breakfast Session
Time Talk Title Speaker
0645-0700 Arrival and breakfast  
0700-0815 Genetic Cardiomyopathies - Diagnosis and Management Prof. James Moon
Session 7: The Great Debate and Top Abstracts

Chairs: Chris Semsarian, Julie McGaughran

Time Talk Title Speaker
0830-0915 Debate: Direct to Consumer Testing in the cardiac sphere FOR: Edwin Kirk (NSW)
AGAINST: Ivan Macciocca (VIC)
0915-1000 Abstract Prize Session (top 3)  
0915-0930  Abstract Finalist 1 - Genomic sequencing 15,000 healthy elderly individuals: Implications for clinical genetics  Paul Lacaze (VIC)
0930-0945  Abstract Finalist 2 - Role of microRNA in the cardiovascular manifestations in Marfan syndrome  Elizabeth Robertson (NSW)
0945-1000  Abstract Finalist 3 - Can a vitamin prevent congenital heart disease?  Congenital NAD deficiency and niacin supplementation  Annabelle Enriquez (NSW)
1000-1030 Morning Break  
Session 8: Arrhythmogenic cardiomyopathies and sudden death
Chairs: Andrew Martin and Jitendra Vohra
Time Talk Title Speaker
1030-1045 Clinical aspects of arrhythmogenic cardiomyopathies Hariharan Raju (NSW)
1045-1100 Key role of the forensic pathologist Johan Duflou (ACT)

Genetic testing in arrhythmias and sudden death


Chris Semsarian (NSW)

Arrhythmias in athletes


André La Gerche (VIC)

What else could it be? (phenocopies)


John Atherton (QLD)

Session 9: Familial Aortopathies

Chairs: Eric Haan and Nicholas Pachter
Time Talk Title Speaker
1030-1045 Medical management of aortopathies Richmond Jeremy (NSW)
1045-1100 Latest genetic testing approaches to aortopathies Bruce Bennetts (NSW)
1100-1115  Updates in Loey Dietz Syndrome Dominica Zentner (VIC)
1115-1130 Aortopathies in pregnancy William Parsonage (QLD)
1130-1150 Surgical approaches to aortic diseases Marco Larobina (VIC)
1200-1330 Lunch  
Session 10: National Collaborations and Case Presentations

Chairs: Chris Semsarian, Jodie Ingles

Time Talk Title Speaker
1330-1350 The Australian Genomics Initiative Andrew Sinclair (VIC)
1350-1400 The Cardiovascular Genetics Flagship

Chris Semsarian (NSW)

Julie McGaughran (QLD)


Case Presentation #1 (arrhythmia/SCD)

Panel Members:

Michael J. Ackerman (USA)

Eric Haan (SA)

Johan Duflou (ACT)

Haris Haqqani (QLD)

Jonathan Skinner (NZ)

Ivan Macciocca (VIC)


Case Presentation #2 (cardiomyopathy)

Panel Members:

Iacopo Olivotto (Italy)

Diane Fatkin (NSW)

Julie McGaughran (QLD)

John Atherton (QLD)

Peter van Tintelen (Netherlands)

Nicholas Pachter (WA)

Karin van Spaendinck-Zwarts (Netherlands)

1500-1530 Afternoon Break  
Session 11: Final thoughts on genetic heart disease

Chairs: Julie McGaughran, John Atherton

Time Talk Title Speaker
1530-1605  Will genotype guide management of inherited cardiomyopathies? Iacopo Olivotto (Italy)
1605-1640 What explains the rest of LQTS? Michael J. Ackerman (USA)
1640-1650 The Final Word Chris Semsarian (NSW)
1650-1700 Official close of the Conference  John Atherton and Julie McGaughran,
Conference Co-Convenors 



WORKSHOP - Wednesday 23rd May 2018

Variant Classification for Sarcomere Genes
Time Talk Title Speaker
0900 Arrival and registration   

Workshop: Variant Classification for Sarcomere Genes 

More information

Jodie Ingles and Richard Bagnall

Note: Lunch not provided on Wednesday



EDUCATIONAL DAY - Wednesday 23rd May 2018

Sponsored by Queensland Genomics Health Alliance

Cardiac genetics for beginners:
Introductory program in inherited cardiovascular conditions for cardiologists, trainees and allied health staff
Time Talk Title Speaker
1200 Arrival and registration   
1230 Introduction: why we need to know this stuff Jonathan Skinner (NZ)
Session 1: Genetics
Chairs: Jonathan Skinner
Time Talk Title Speaker
1235-1300 Talk like a geneticist Edwin Kirk (NSW)  
1300-1325 Genetics and Genetic Testing 101: How do you spell D-N-A? Michael J. Ackerman (USA)
1325-1340 Clinical conditions: The cardiomyopathies Chris Semsarian (NSW)
1340-1355 Clinical conditions: The cardiac ion channelopathies Jonathan Skinner (NZ)
1355-1410 Clinical conditions: Familial Hypercholesterolaemia and Lipoprotein a: Double Jeopardy! David Sullivan (NSW)
1410-1425 Aortopathies Dominica Zentner (VIC)
1425 - 1455 Afternoon Break  
Session 2: Preparation and Counselling for a genetic test
Chairs: Jonathan Skinner
Time Talk Title Speaker
1455-1510 What the cardiologist must do before considering a genetic test John Atherton (QLD)
1510-1525 Counselling prior to testing, counselling for probabilities, and when not to do a genetic test  Jodie Ingles (NSW)
1525-1540 Dealing with the result and the clinical fallout Julie McGaughran (QLD)
Session 3: Questions, Discussion and Illustrative cases with audience participation

Chairs: Jonathan Skinner, Jodie Ingles, Michael J. Ackerman

Time Talk Title Speaker
1540-1600 Case 1 Ivan Macciocca (VIC)
1600-1620 Case 2 Jackie Crawford (NZ)
1620-1640 Case 3

Laura Yeates (NSW)
1640-1700 Final Discussion and Closing remarks

Welcome Function
1800 - 1900 Welcome Function, Exhibition Area