Pathology Update 2025

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Sessions

Check out our schedule of sessions

Meet the Chief Examiner - Genetic

21 February 2025 9:00 am

Meeting Room 109

Case Presentations - Genetic - Trainees

21 February 2025 10:30 am

Meeting Room 109

Scientific Session - Genetic - Newborn Genomic Screening

21 February 2025 2:05 pm

Meeting Room 109

Scientific Session - Genetic

21 February 2025 4:00 pm

Meeting Room 109

Scientific Session - Genetic - Variant Classification

22 February 2025 11:00 am

Meeting Room 109

Scientific Session - Genetic - Broader Issues in Genetics

22 February 2025 1:30 pm

Meeting Room 109

Scientific Session - Genetic - Cancer

22 February 2025 3:30 pm

Meeting Rooms 101 & 102

Scientific Session - Genetic - Non-Coding and Mitochondrial Genome

23 February 2025 11:00 am

Meeting Rooms 101 & 102

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Abstracts/Presentations

Incredible talks just a click away

Investigation of atypical profiles on a targeted CFTR assay can expand diagnostic yield

10:30 am 21 February 2025

Meeting Room 109

Ms Jessica M Clarke

Complexities of gonadal mosaicism

10:40 am 21 February 2025

Meeting Room 109

Ms Krystle Standen

Advancing Precision Diagnosis in Haematological Malignancies

10:50 am 21 February 2025

Meeting Room 109

Ms Jessica Wright

The complexities of CAH

11:00 am 21 February 2025

Meeting Room 109

Dr Melissa Robinson

XY sex chromosome complement on microarray – technical error or incidental finding?

11:10 am 21 February 2025

Meeting Room 109

Dr Jennifer Phan

Implementation of expanded carrier screening at VCGS

11:20 am 21 February 2025

Meeting Room 109

Miss Crystle Lee

Therapy Ready and Information for Life - the TRAIL study

2:05 pm 21 February 2025

Meeting Room 109

Prof Bruce Bennetts

Feasibility and acceptability of genomic newborn screening in the Australian public healthcare system: BabyScreen+ pilot study

2:35 pm 21 February 2025

Meeting Room 109

Prof Zornitza Stark

NewbornsInSA: Multi-omic model for genomic newborn screening

3:05 pm 21 February 2025

Meeting Room 109

Prof Karin Kassahn

RNA4RD: revolutionising rare disease diagnosis with RNA testing

4:00 pm 21 February 2025

Meeting Room 109

Prof Sandra Cooper

10 years of Australian Genomics: evolving priorities, and future directions

4:30 pm 21 February 2025

Meeting Room 109

Dr Matilda Haas

Meet the Chief Examiner - Genetic (Dr Meg Wall)

9:00 am 22 February 2025

Meeting Room 109

Dr Meaghan Wall

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ePosters

Incredible talks just a click away

Molecular insights using 3D genomics to characterise complex structural variants and ecDNA in glioblastoma: a case report

Dr Jamin Wu

BRAF and KRAS alterations in EGFR/ALK/ROS1 negative lung adenocarcinomas

Dr Amanjit Bal

ASDG best practice guidelines for the interpretation and reporting of karyotypes and FISH

Ms Louise Carey

IT RUNX1 IN THE FAMILY

Mrs Tamaryn Knezovich

Iron and the induction of ferroptosis in an animal model of type 1 hereditary haemochromatosis

Ms Moeza Arona Merchant

Accurate Diagnosis of Hydatidiform Moles requires integrating Histopathology with Genetic Testing

Dr David Lau

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Speaker/Presenting Authors

Our handpicked speaker lineup

Featured

A Prof Nicola Whiffin

Associate Professor

University of Oxford

Prof Bruce Bennetts

The Children's Hospital At Westmead Department of Molecular Genetics - Australia

Eden Rose Borrie

Eden Borrie Science Animations; Consultant, Children’s Medical Research Institute

Ms Jessica M Clarke

Senior Genetic Scientist

Douglass Hanly Moir Pathology - Australia

Prof Sandra Cooper

Kids Neuroscience CentreKids Research - Australia

Prof Jon Emery

Australia

Prof David Faulkner

Australia

A/Prof Ilias Goranitis

Australia

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Program

Speakers

Grants

Prizes

Genetic Pathology

Sessions

Abstracts/Presentations

ePosters

Speaker/Presenting Authors