HGSA 45th
  Annual Scientific Meeting

  24-27 November 2022

  Perth Convention and Exhibition Centre
  Perth, Western Australia



Special Interest Group Meetings

Thursday 24 November, Perth Convention and Exhibition Centre. 

Times are based on Perth time, AWST (UTC+8)
AACG, ASGC & ASDG SIG meetings will be live streamed. Due to low virtual numbers for the ASIEM SIG, this will not be live streamed. ASIEM SIG meeting will be recorded only and provided on-demand post meeting. 
Note: recordings may take 1-2 weeks to edit and upload before on-demand viewing is available.

AACG SIG Meeting

0915 Welcome & Acknowledgement of Country
0920-0930 Introduction to Clinical Cases Day
0930-1045 Cases

1045 - 1115 Morning Break 

1115-1200 International speaker- Prof Fowzan Alkuraya –“The phenomenon of human knockouts.”
1205-1245 Clinical Cases

1245-1330 Lunch Break 

1330-1430 AACG AGM
1430-1500 Clinical Cases
1500-1520 Tribute to Dr Anne Turner
1520-1550 Clinical Cases
1550 Close

ASIEM SIG Meeting

0830 Welcome & Invited International Speaker: Chasing the holy grail – how does pathology lead to cognitive loss in certain lysosomal diseases - Prof Brian Biggar 
Session 1
0915 Standard Biomarkers do not Correlate with Disease Progression in Childhood-Onset Cobalamin C Disease - Dr Arthavan Selvanathan
0930 Delta (4)-3-Oxosteroid 5-Beta-Reductase Deficiency: Case Report And First-Tier Screening By Targeted Urine Tandem Mass Spectrometry Analysis - Kai Mun Hong
0945 Ethylmalonic Encephalopathy Detection In Newborn Bloodspot Screening - Miss Samantha Wimalaratna
1000 Molecular genetic analysis of a cohort of patients with Glutaric aciduria Type II in the Queensland Lifespan Metabolic Service - Dr Kalliope Demetriou
1015 Multiple Acyl-CoA Dehydrogenase diagnosed on carrier screening in a symptomatic patient with diabetes - Ms Sarah Donoghue

1030-1100  Morning Tea

Session 2
1100 Invited Speaker - Dr Fiona White
Submitted Orals
1145 Developing a graded practical approach for dietary fat liberalisation in VLCAD - Ms Kiera Batten
1200 Modular Feeding With Triheptanoin in a Child with Carnitine Acylcarnitine Translocase Deficiency (CACT) - Ms Melissa Colombo
1215 An 18-month-old female with ornithine transcarbamylase (OTC) deficiency who presented with hyperammonaemia which progressed to acute liver failure - Ms Anita Inwood
1230 Improved nutrition and high dose vitamins prevent metabolic crisis in a child with TANGO 2 mutation - A/Prof Maina Kava & Ms Tamara Farrell
1245 Neurodevelopmental outcome following  Lysine Restricted diet in preterm twins with  Pyridoxine dependent epilepsy -Case studies from Western Australia - A/Prof Maina Kava & Ms Tamara Farrell

1300-1400 Lunch

Session 3
1400 Invited Speaker - Prof David Thorburn - Diagnostic outcomes from the Australian Genomics Mito Flagship and prospects for the MRFF MitoMDT Multi-omics Network
Submitted Orals
1445 Newborn screening for GAMT deficiency - Dr James Pitt
1500 Comparison of screening protocols for congenital adrenal hyperplasia (CAH) in the New South Wales Newborn Screening Programme  - Fei Lai
1515 Optimising Second-Tier Newborn Screening For Congenital Adrenal Hyperplasia - A/Prof Ronda Greaves
1530 RNA Studies Resolve Molecular Diagnosis Of Galactosemia - Dr Lisa Riley

1545-1615  Afternoon Tea

1615 ASIEM  AGM
1715 Close

ASDG SIG Meeting

0900-915 Welcome
0915-1015 Themed Plenary - Invited International Speaker - Case studies in diagnostics and omics based personalized medicine -  Dr Elizabeth Worthey
1015-1045 Morning Break
1045-1145 AGM
1145-1315 Selected Orals Session 2

  1. Identifying chromosome haplotype blocks using SNP chromosome microarray genotyping – A proof of concept.- Mr Con Ngo
  2. Saliva Sampling Shows Increased Technical and Clinical Utility over Blood Sampling in Genetic Investigation of Syndromic Intellectual Disability – Mr David Francis
  3. Germline sequencing of DNA-damage-repair genes in two hereditary prostate cancer cohorts reveals rare risk-associated variants – Ms Georgea Foley
  4. Prostate tumours from HOXB13 G84E rare variant carriers have distinct proteome and transcriptome signatures compared to non-carriers – Dr Kelsie Raspin
  5. Germline copy number variants and endometrial cancer risk – Miss Cassie Stylianou
  6. Somatic mutational landscape of hereditary haematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41 – Dr Claire Homan
1315-1415 Lunch Break

1415-1545 Selected Orals Session 3

  1. Oxford Nanopore Sequencing for the Resolution of De Novo Copy Number Variants (CNVS) In Patients Undergoing Preimplantation Genetic Testing (PGT-M) – Dr  Kylie Drake
  2. Use Of Karyomapping for Preimplantation Genetic Testing for a Monogenic ondition (PGT-M) in Consanguineous Couples – Dr Elissa Willats
  3. Re-Defining Polycystic Kidney Disease: How Atypical Presentations of Early-Onset PKD are Shining New Light on Genotype-Phenotype Correlations of The Disorder – Ms Marlie Frank
  4. Defining The Role of a Novel Gene “MyoD Family Inhibitor Domain Containing (MDFIC)” Important in Cardiovascular Development  - Ms Saba Montazeribarforoushi
  5. A two-step approach for detecting and phasing variant associated mis-splicing. – Mr Adam Bournazos (virtual)
  6. Improving Clinical Translation of High-Throughput Functional Assay Data With Mavedb – Dr Alan Rubin (virtual)
1545-1615 Afternoon Break

1615-1645 Session 4 - Cancer SIG/QAP

ASGC SIG Meeting

0900-0915  Welcome

0915-1015  Invited Speaker: Dr Yvonne Bombard - How digital tools are changing genetic counselling practice: Evidence, preferences & policy

1015-1045  Selected Oral Presentations

  1. Evaluation of the Parkville Familial Cancer Centre breast cancer mainstream genetic testing program - Dr Catherine Beard
  2. Genetics follow up after rapid genomic sequencing in intensive care: Current practices and recommendations for service delivery - Dr Fiona Lynch

1045-1115  Morning Tea

1115-1245  Interesting Cases:

  1. Polycystic Kidney Disease and the hunt for the elusive causative variant - Ms Anna Leaver
  2. A complex prenatal case involving long continuous stretches of Homozygosity (LCSH), telehealth, interpreters, uncertain results and laboratory complications - Ms Anita Gorrie 
  3. Ethical complexity of counselling monozygotic twins with differing views on predictive testing for early onset Alzheimer's disease - Ms Lisa Gordon
  4. Removing choice? An experience of returning a pathogenic variant detected through population genomic screening - Ms Yasmin Bylstra
  5. Would you like more results with that? - Ms Amanda Springer
1245-1330  Lunch

1330-1400 Invited Speaker: Dr Felicity Boardman (virtual)

1400-1500 Selected Oral Presentations

  1. Approaching discussions about genetics with people who have palliative care needs: a qualitative exploration with genetic health professionals – Ms Stephanie White
  2. Attitudes of filipino parents of children with down syndrome on non-invasive prenatal testing – Dr Lenzia de Castro-Hamoy
  3. Our Voice: Mito community priorities for the Australian mitochondrial donation pilot program - Ms Emma Celis
  4. Race, ethnicity and ancestry reporting in genetic counselling research: A modified scoping review - Dr Marta Arpone

1500-1530  Afternoon Tea

1530-1600 Invited Speaker: Dr Erin Turbitt - Prognostic testing in children with genetic syndromes to predict cognitive and behavioural outcomes'

1600-1630  Judith Elber Presentation: Mrs Stephanie Broley (Senior Genetic Counsellor, Genetics Services WA)

1630 Meeting closes

 

Conference Secretariat

AACB Services Pty Ltd
PO Box 7336, Alexandria NSW 2015
P: (61) 0408 904 524       E: conference@aacb.asn.au