Michael C. Quinn
A5105763617- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Cancer-related molecular mechanisms research
- Ovarian cancer diagnosis and treatment
- Genomics and Rare Diseases
- Pancreatic and Hepatic Oncology Research
- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
- RNA Research and Splicing
- Lung Cancer Treatments and Mutations
- BRCA gene mutations in cancer
- Genomics and Phylogenetic Studies
- Bioinformatics and Genomic Networks
- Genetic factors in colorectal cancer
- Evolution and Genetic Dynamics
- Mitochondrial Function and Pathology
- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- Nutrition, Genetics, and Disease
- Cancer Immunotherapy and Biomarkers
- Acute Lymphoblastic Leukemia research
- Cancer-related Molecular Pathways
- Childhood Cancer Survivors' Quality of Life
- Neuroendocrine Tumor Research Advances
- Ferroptosis and cancer prognosis
Melbourne Genomics Health Alliance
2019-2025
Royal Brisbane and Women's Hospital
2019-2025
QIMR Berghofer Medical Research Institute
2015-2024
The University of Queensland
2014-2023
Murdoch Children's Research Institute
2023
Queensland Health
2023
James Cook University
2023
University of Tasmania
2023
Hunter Genetics
2021
Neuroscience Research Australia
2020
Oesophageal adenocarcinoma (EAC) incidence is rapidly increasing in Western countries. A better understanding of EAC underpins efforts to improve early detection and treatment outcomes. While large exome sequencing date have found recurrent loss-of-function mutations, oncogenic driving events been underrepresented. Here we use a combination whole-genome (WGS) single-nucleotide polymorphism-array profiling show that genomic catastrophes are frequent EAC, with almost third (32%, n=40/123)...
<h3>Importance</h3> Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathways that provide equitable consistent service across health systems. <h3>Objective</h3> To prospectively evaluate the performance a multicenter network for ultra-rapid diagnosis public system. <h3>Design, Setting, Participants</h3> Descriptive feasibility study critically ill patients with suspected monogenic conditions treated at 12 Australian hospitals...
Abstract Treatment options for patients with brain metastases ( BMs ) have limited efficacy and the mortality rate is virtually 100%. Targeted therapy critically under‐utilized, our understanding of mechanisms underpinning metastatic outgrowth in limited. To address these deficiencies, we investigated genomic transcriptomic landscapes 36 from breast, lung, melanoma oesophageal cancers, using DNA copy‐number analysis exome‐ RNA ‐sequencing. The key findings were as follows. (a) Identification...
Abstract Reanalyzing stored genomic data over time is highly effective in increasing diagnostic yield rare disease. Automation holds the promise of delivering benefits reanalysis at scale. Our study aimed to understand current practices among Australian clinical and laboratory genetics services explore attitudes towards large-scale automated re-analysis. We collected audit regarding testing volumes, policies procedures from all laboratories providing disease testing. A genetic health...
Abstract Background Cell line models have proven to be effective tools investigate a variety of ovarian cancer features. Due the limited number cell lines, particularly serous subtype, heterogeneity disease, and lack lines that model disease progression, there is need further develop resources available for research. This study describes nine derived from three cases were established at initial diagnosis subsequent relapse after chemotherapy. Methods The women diagnosed with high-grade...
Genetic kidney disease (GKD) significantly affects the community and is responsible for a notable portion of adult cases about half in paediatric patients. It substantially impacts quality life expectancy affected children adults across all stages disease. Precise genetic diagnosis GKD promises to improve patient outcomes, provide access targeted treatments, reduce burden individuals, families, healthcare systems. investigations are increasingly used nephrology practice; however, many...
Symptomatic methotrexate-related central neurotoxicity (MTX neurotoxicity) is a severe toxicity experienced during acute lymphoblastic leukemia (ALL) therapy with potential long-term neurologic complications. Risk factors and outcomes require further study. We conducted systematic, retrospective review of 1,251 consecutive Australian children enrolled on Berlin-Frankfurt-Münster or Children's Oncology Group-based protocols between 1998-2013. Clinical risk predictors for MTX were analyzed...
<h3>OBJECTIVE</h3> To determine whether accurate remote echocardiographic diagnosis of congenital heart disease could be achieved using a low cost telemedicine system. <h3>DESIGN</h3> Echocardiographic images obtained by paediatrician from neonates suspected having were transmitted link across two integrated service digital network (ISDN) lines to regional paediatric cardiology unit for interpretation consultant cardiologist. The "tele-echo" was verified the cardiologist on direct...
High-grade ovarian serous carcinomas (HGSC) are characterized by TP53 mutations and non-random patterns of chromosomal anomalies, where the nature mutation may correlate with clinical outcome. However, frequency common somatic genomic events occurring in HGSCs from demographically defined populations has not been explored. Whole genome SNP array, mutation, gene protein expression analyses were assessed 87 confirmed HGSC samples correlates French Canadians, a population exhibiting strong...
Previous studies have implicated vestigial like 3 ( VGLL3 ), a chromosome 3p12.3 gene that encodes putative transcription co‐factor, as candidate tumor suppressor (TSG) in high‐grade serous ovarian carcinomas (HGSC), the most common type of epithelial cancer. A complementation analysis based on microcell‐mediated transfer (MMCT) using centric fragment (der3p12‐q12.1) into OV‐90 cancer cell line haploinsufficient for 3p and lacking expression was performed to assess effect tumorigenic...
Abstract Recent work indicates that salivary glands are able to constitutively recruit CD8+ T cells and retain them as tissue-resident memory cells, independently of local infection, inflammation, or Ag. To understand the mechanisms supporting cell recruitment gland, we compared migration gland in mice were infected not with murine CMV (MCMV), a herpesvirus infects promotes accumulation cells. We found acute MCMV infection increased rapid but equal numbers activated eventually accumulated...
Basal-like and triple negative breast cancer (TNBC) share common molecular features, poor prognosis a propensity for metastasis to the brain. Amplification of epidermal growth factor receptor (EGFR) occurs in ~50% basal-like cancer, mutations have been reported up ~ 10% Asian TNBC patients. In non-small cell lung several different EGFR tyrosine kinase domain confer sensitivity inhibitors, but tumourigenic potential cells their targeted therapy is unknown.Constructs containing wild type,...
Human follicular fluid can provide a source of human granulosa cells for scientific study. However, removing potentially contaminating cells, such as white and red blood is important molecular in vitro studies. We have developed purification technique based on the selection cellular aggregates. from 21 IVF patients were collected. A 50% Percoll gradient was used to remove cell aggregates collected, washed processed histology, electron microscopy, flow cytometry analysis, culture RNA...
The frequent loss of chromosome 17 in epithelial ovarian carcinomas (EOC), particularly high-grade serous (HGSC), has been attributed to the disruption TP53 (at 17p13.1) and other genes suspected play a role tumour suppressor pathways. In transcriptome analysis HGSC, we showed underexpression number genes, which included FKBP10 17q21.1) collagen I α 1 (COL1A1; at 17q21.33). codes for immunophilin FKBP65 is act as chaperone COL1A1. We have investigated (gene) (protein) expression HGSC samples...