The University of Sydney at ASHG 2026

Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website

The University of Sydney brings 5 presentations from 4 research groups to ASHG 2026 in Montréal. Its program centres on cancer risk and detection, ancestry-linked disease, and rare genetic disorders and therapies at this meeting. Genomics and Precision Health evaluates polygenic risk scores for screening four cancers, Ancestry and Health Genomics Lab links prostate-tumour features to ancestry and geography, and Molecular Neurobiology defines variant-specific tubulinopathy mechanisms.

OrganizationASHG 2026 Attendance
The University of Sydney
Sydney, Australia
3 PhD Students · 1 PI
Ancestry and Health Genomics Labsydney.edu.au/medicine-health/our-research/research-centres/ancestry-and-health-genomics-lab.html
Wet + dry lab~20 people
Uses tumour whole-genome, transcriptome and epigenome data, long-read sequencing and optical genome mapping. Studies ancestry-linked prostate-cancer disparities with the Sydney Informatics Hub.
65 papers since 2024
›
The Germline and Somatic Origins of Prostate Cancer Heterogeneity
Cancer Discovery, 2025
Health Equity Research Outcomes and Improvement Consortium Prostate Cancer Health Precision Africa1K: Closing the Health Equity Gap Through Rural Community Inclusion
Journal of Urologic Oncology, 2024
Charting a landmark-driven path forward for population genetics and ancient DNA research in Africa
The American Journal of Human Genetics, 2024
Source: OpenAlex author A5030507591
15 platforms and techniques
›
Works with
Bionano Saphyr gen2, Optical genome mapping, Digital karyotyping, Long-read sequencing, Short-read sequencing, Whole-genome sequencing, Transcriptomic workflows, Tumour-derived DNA methylation
Techniques
Telomere-to-telomere genome finishing, Pangenome analysis, Machine learning, Quantum computing, Multi-omic integration, Exposomics, Polygenic risk scoring
Source: lab pages
No funding stated · No openings posted
Talk
Fri Oct 23
11:45 am
Differentiate molecular hallmarks in prostate tumours linking ancestry and geography
Collaborators: University of Manchester, University of Pretoria +5 more
CancerComputational toolsGene environment interactionPrecision medicine
Genomics and Precision Healthdaffodilcentre.org/streams/genomics-and-precision-health
Dry lab~8 people
Integrates individual and population-level genomic, health, and demographic information. Evaluates multi-cancer detection tests for risk-based cancer screening and early detection.
40 papers since 2024
›
The global impact of the COVID-19 pandemic on delays and disruptions in cancer care services: a systematic review and meta-analysis
Nature Cancer, 2025
The Cost Effectiveness of Genomic Medicine in Cancer Control: A Systematic Literature Review
Applied Health Economics and Health Policy, 2025
Mainstreaming Cancer Genomic Testing: A Scoping Review of the Acceptability, Efficacy, and Impact
Clinical Genetics, 2024
Source: OpenAlex author A5079865615
Funded by Australian Government Medical Research Future Fund, Medical Research Future Fund +1 more
›
Australian Government Medical Research Future Fund, Australian Cancer Risk Study · active
“This research program is funded by a $3M grant from the Australian government’s Medical Research Future Fund (MRFF)”
Medical Research Future Fund, MCD Spotlight · active
“our team leads MCD Spotlight, a $3M MRFF-funded collaborative research program”
Cancer Institute NSW, Career Development Fellowship · active
“as part of A/Prof. [name]’s Cancer Institute NSW Career Development Fellowship”
Source: lab pages
9 platforms and techniques
›
Analyzes
Multi-cancer detection tests
Techniques
Cancer risk prediction, Risk-based cancer screening, Multi-cancer detection test evaluation, Large-scale health-data analysis, Microsimulation modelling, Health economic evaluation, Implementation studies and trials, Pan-tumour biomarker burden forecasting
Source: lab pages
No openings posted
Molecular Neurobiologykr.schn.health.nsw.gov.au/our-research/neuroscience/kids-neuroscience-centre/research-groups/molecular-neurobiology
Wet lab~11 people
Develops gene therapies using cortical brain organoids, stem-cell technologies and bioinformatic computational tools. Targets Rett syndrome and rare monogenic neurodevelopmental disorders.
15 papers since 2024
›
Epigenetic, ribosomal, and immune dysregulation in paediatric acute-onset neuropsychiatric syndrome
Molecular Psychiatry, 2025
Rett syndrome
Nature Reviews Disease Primers, 2024
Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndrome
EBioMedicine, 2024
Source: OpenAlex author A5003074211
Funded by NHMRC
›
NHMRC, Ideas Grant · 2026
“awarded $1,710,000 (NHMRC Ideas Grant) to conduct a novel multi-isoform gene therapy approach for neurodevelopmental disorders.”
Source: lab pages
6 platforms and techniques
›
Techniques
cortical brain organoids, stem cell technologies, bioinformatic computational tools, patient-cell conversion to stem cells, gene therapies, multi-isoform gene therapy
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Defining variant-specific tubulinopathy molecular mechanisms in malformations of cortical development (MCDs)
Collaborators: Swansea University, University of Washington +1 more
Protein structureNeurodevelopmentalMalformationGenetic variation
Translational Neurogenomics Research Groupkr.schn.health.nsw.gov.au/our-research/neuroscience/kids-neuroscience-centre/research-groups/translational-neurogenomics
Wet + dry lab~5 people
Studies neurological disorders with whole-genome/exome sequencing, 3D model systems and high-throughput in-vitro functional assays. Focuses on hyperekplexia, epilepsy and rare genetic disease mechanisms.
Funded by National Health and Medical Research Council (NHMRC)
›
National Health and Medical Research Council (NHMRC), Ideas Grant · 2021
“[name] has been awarded $586,000 for Characterisation of novel genetic variants in Hyperekplexia and Dravet Syndrome: Identifying the Unknown Knowns”
Source: lab pages
13 platforms and techniques
›
Works with
whole-genome sequencing, whole-exome sequencing, next-generation sequencing, 3D model systems, high-throughput in-vitro functional assays, brain organoids, cellular live-cell imaging
Techniques
in-vitro functional characterisation, alternative splicing analysis, 3D protein modelling, protein characterisation, computer-based structural modelling, 3D model systems
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
Aberrant splicing across glycinergic genes underlies human hyperekplexia
Collaborators: Swansea University
Alternative splicingNeurogeneticsSplicing mechanismsGenetic variation
1 more presenter — research group not yet identified

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