A5012543590- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
- Prenatal Screening and Diagnostics
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Single-cell and spatial transcriptomics
- Genetics and Neurodevelopmental Disorders
- Celiac Disease Research and Management
- Protein Degradation and Inhibitors
- Cancer, Lipids, and Metabolism
- Microscopic Colitis
- Histone Deacetylase Inhibitors Research
- Cell Adhesion Molecules Research
- Immune cells in cancer
- Galectins and Cancer Biology
- Immunotherapy and Immune Responses
University of Newcastle Australia
2020-2024
Garvan Institute of Medical Research
2024
Hunter Medical Research Institute
2021-2023
The Kids Research Institute Australia
2023
The University of Western Australia
2023
Genomic imprinting establishes parental allele-biased expression of a suite mammalian genes based on parent-of-origin specific epigenetic marks. These marks are under the control maternal effect proteins supplied in oocyte. Here we report repressor Smchd1 as novel gene that regulates imprinted ten mice. We also found zygotic SMCHD1 had dose-dependent seven genes. Together, and regulate three classic clusters eight other genes, including non-canonical Interestingly, loss does not alter...
Recurrences frequently occur following surgical removal of primary tumors. In many cancers, adjuvant therapies have limited efficacy. Surgery provides access to the tumor microenvironment, creating an opportunity for local therapy, in particular immunotherapy, which can induce and systemic anti-cancer effects. Here, we develop a surgically optimized biodegradable hyaluronic acid-based hydrogel sustained intraoperative delivery Toll-like receptor 3 agonist poly(I:C) demonstrate that it...
Global changes in DNA methylation are observed development and disease, single-cell analyses highlighting the heterogeneous regulation of these processes. However, technical challenges associated with analysis limit studies. We present transposable element sequencing (scTEM-seq) for cost-effective estimation average levels. By targeting high-copy SINE Alu elements, we achieve amplicon bisulphite thousands loci covered each scTEM-seq library. Parallel transcriptome is also performed to link...
Abstract Intestinal inflammation continues in a subset of celiac disease (CD) patients despite gluten-free diet. Here, by applying multiomic single cell analysis to duodenal biopsies, we find low-grade malignancies with lymphoma driver mutations refractory CD type 2 (RCD2) comprise surface CD3 negative (sCD3-) lymphocytes stalled at an innate lymphoid (ILC) - progenitor T stage undergoing extensive TCR recombination. In people 1 (RCD1), who currently lack explanation, discover sCD3+ cells...
Colorectal cancer (CRC) is the third most common worldwide. Screening programs allow early diagnosis and have improved clinical management of this disease. Aberrant DNA methylation increasingly being explored as potential biomarkers for many types cancers. In study we investigate ten target genes in 105 CRC paired normal adjacent colonic tissue samples using a MethylLight droplet digital PCR (ML-ddPCR) assay. Receiver operator characteristic (ROC) curves were used to determine diagnostic...
Embryonic development is dependent on the maternal supply of proteins through oocyte, including factors setting up adequate epigenetic patterning zygotic genome. We previously reported that one such factor repressor SMCHD1, whose controls autosomal imprinted expression in mouse preimplantation embryos and mid-gestation placenta. In embryos, X chromosome inactivation also an process. Combining genomics imaging, we show SMCHD1 required not only for Xist but efficient silencing inactive both...
DNA hypomethylating agents (HMAs) are used to treat acute myeloid leukaemia (AML) and myelodysplasia patients who unsuitable for intensive chemotherapy, but low response rates therapy-resistant relapse remain significant challenges. To optimise HMA efficacy, we must understand how resistance arise from cells that survive treatment. Here combine single-cell multi-omic analysis with parallel colony-forming assays link HMA-induced molecular heterogeneity functional consequences in AML cells....
Abstract Colorectal cancer (CRC) is the third most common worldwide. Screening programs allow early diagnosis and have improved clinical management of this disease. Aberrant DNA methylation increasingly being explored as potential biomarkers for many types cancers. In study we investigate ten target genes in 105 CRC paired normal adjacent tissue samples using a MethylLight droplet digital PCR (ML-ddPCR) assay. Receiver operator characteristic (ROC) curves were used to determine diagnostic...
ABSTRACT Global changes in DNA methylation are observed developmental and disease contexts, singlecell analyses highlighting the heterogeneous regulation of these processes. However, technical challenges associated with single-cell analysis limit studies. We present transposable element sequencing (scTEM-seq) for cost-effective estimation global levels. By targeting high-copy LINE-1 SINE Alu elements, we achieve amplicon bisulphite thousands loci covered each library. Parallel transcriptome...
Abstract Embryonic development is dependent on the maternal supply of proteins through oocyte, including factors setting up adequate epigenetic patterning zygotic genome. We previously reported that one such factor repressor SMCHD1, whose controls autosomal imprinted expression in mouse preimplantation embryos and mid-gestation placenta. In embryos, X chromosome inactivation also an process. Combining genomics imaging, we show SMCHD1 required not only for Xist but efficient silencing...