HGSA Virtual Conference
24-25 November 2020

Program

Note:  Times are based on Sydney time, AEDT (UTC +11)

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Tuesday 24 November 2020

1045-1100Meet our Sponsors & Exhibitors
1100-1104Welcome to the HGSA Virtual Conference
1105-1135Plenary 1 - Using large-scale genomic data sets to improve the interpretation of human genetic variation- Dr Daniel MacArthur
1140-1211Concurrent Sessions - Submitted Oral Presentations
Session 1 
Session 2
1140-1155 - Oral 1
“We just wanted to get it done”: The parent experience of rapid acute care genomics - Miss Fiona Lynch

1156-1211 - Oral 3
Health professionals’ views and experiences following commencement of the genetics and life insurance moratorium - Ms Jane Tiller
1140-1155 - Oral 2
Mutations in the exocyst component EXOC2 cause severe defects in human brain development - Dr Nicole Van Bergen

1156-1211 - Oral 4
Diagnostic outcomes of the Australian Genomics Brain Malformations Flagship - Mrs Daniz Kooshavar

1211-1220Coffee Break & Speed Networking - Grab a coffee and networking with other delegates
1220-1240Concurrent Industry Sessions

Illumina Industry Session

Comprehensive cloud-based secondary and tertiary analysis for WGS and WES for rare genetic disease testing

Dr Michael Fietz 

BioMarin Industry Session

Beyond the X-ray: Gene panels to facilitate diagnosis of skeletal dysplasias

Prof Ravi Savarirayan


1240-1300Lunch Break & Virtual Exhibition - Grab some lunch and visit the Virtual Exhibition to connect with our sponsors and exhibitors
1300-1320ePosters Session - This session is interactive where authors will be available to discuss their poster with delegates.
1320-1325Stretch & refresh break - A quick break to stretch and refresh before the last sessions of the day
1325-1356Concurrent Sessions - Submitted Oral Presentations
Session 3 
Session 4
1325-1340 - Oral 5
Kinesin-3 family member 1A (KIF1A)-Associated Neurological Disorders (KAND): Past, Present and Future - Dr Simranpreet Kaur

1341-1356 - Oral 7
Unique genotype-dependent trajectories in retinal lesion area based on ultrawide-field autofluorescence evaluation in Stargardt disease (STGD1) - Dr Rachael Heath Jeffery
1325-1340 - Oral 6
Expanded Preconception Carrier Screening – Results from a WA Pilot Program - Ms Samantha Edwards

1341-1356 - Oral 8
Scaling national and international improvement in virtual gene panel curation using a collaborative approach to discrepancy resolution - A/Prof Zornitza Stark

1400-1500Plenary 2 - Panel Session
Dealing with uncertainty: reporting incidental findings for adult-onset conditions

This live and interactive case review will explore the topic of returning incidental findings for adult-onset conditions identified in childhood. Education, Ethics and Social Issues Committee representatives will lead a discussion of the ethical, laboratory, and counselling issues surrounding a case of an incidental finding identified on microarray. They will draw on the expertise of an esteemed panel, consisting of Martin Delatycki, David Francis, Samantha Ayres and Aideen McInerney-Leo.

1501-1505Close of Day 1
1505-1530SIG Networking & Meet our Exhibitors
Stay online and join the SIG networking and catch up with colleagues OR check out the exhibition and meet with our sponsors & exhibitors.  

We realise the program is packed so we've given you extra time for networking and to meet with Exhibitors!


Wednesday 25 November 2020



1045-1100Networking & Virtual Exhibition - Touch base with friends and colleagues or visit the Virtual Exhibition and meet our sponsors & exhibitors
1100-1104Welcome to Day 2
1105-1135Plenary 3 -Detection of known and novel repeat expansions with next generation sequencing data - Prof Melanie Bahlo
1140-1200ePoster Session This session is interactive where authors will be available to discuss their poster with delegates.
1200-1300Lunch Break & Virtual Exhibition (includes HGSA AGM from 1220)
Explore the Virtual Exhibition hall and connect with exhibitors over lunch
      1220-1255HGSA AGM
1300-1331Concurrent Sessions - Submitted Oral Presentations
Session 5 
Session 6
1300-1315 - Oral 9
Lower penetrance estimates for neurosusceptibility loci – an improved formula - Dr Shuxiang Goh

1316-1331 - Oral 11
Functional studies coupled with detailed clinical phenotyping provides new insights into CLCN4-encephalopathy in a cohort of 29 individuals - Dr Elizabeth Palmer
1300-1315 - Oral 10 
The patient with 41 reports: Analysis of laboratory exome sequencing reporting of a ‘virtual patient’ - Dr Danya Vears

1316-1331 - Oral 12
The psychosocial impact of receiving unexpected genetic findings from research: experiences of lifepool participants - Ms Mary-Anne Young

1331-1345Networking Break & Virtual Exhibition
1345-1415Concurrent Sessions - Submitted Oral Presentations
Session 7 
Session 8
1345-1400 - Oral 13
Pathogenic variants in MRPL39 as a novel cause of mitochondrial disease - Ms Sumudu Amarasekera

1401-1416 - Oral 15
The Australian Genomics Health Alliance Mitochondrial Flagship: Searching for What Lies Beneath - Prof John Christodoulou
1345-1400 - Oral 14 
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome - Dr Mathew Wallis

1401-1416 - Oral 16
Bi-Allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders - Dr Justin Szot

1420-1455Plenary 4 - McKenzie's Mission - the story so far - Prof Edwin Kirk & Dr Belinda McClaren
1500-1505Close of Conference
1505-1530SIG Networking & Meet our Exhibitors
Stay online and join the SIG networking and catch up with colleagues OR check out the exhibition and meet with our sponsors & exhibitors.  


Contact

Conference Secretariat, AACB Services

Lisa King, Event Manager |    : 0408 904 524 |  : lisa@aacb.asn.au ; conference@aacb.asn.au
Sharon Boynes, Events Officer |    : 0427 016 048 |  : sharon@aacb.asn.au