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Areas
Diseases
  • Muscular dystrophies
  • Neurodevelopmental disorder
  • Prader-Willi syndrome
Technologies
  • Transcriptomics

About

We aim to understand the molecular mechanisms behind epigenetic silencing. We use several model systems to study the interaction between known and novel epigenetic modifiers: X inactivation, genomic imprinting, and embryonic development.

In each case, we seek to understand how epigenetic modifiers elicit transcriptional silencing, and how this relates to functional outcomes for the cell. We use a combination of genetic, genomic and advanced imaging techniques to address these questions.

By studying the molecular mechanisms governing epigenetic control in normal development, we hope to understand how it goes awry in disease. This may reveal how we can manipulate epigenetic state for therapeutic gain.

Our current focus is the epigenetic regulator SMCHD1. We are screening for small molecule activators and inhibitors of SMCHD1: the former as potential treatments for facioscapulohumeral muscular dystrophy, the latter for Prader Willi and Schaaf-Yang syndromes. These diseases have no current targeted treatments and remain incurable.

Publications

Selected publications from Prof Marnie Blewitt

Bergamasco MI, Ozturk E, Casillas-Espinosa PM, Garnham AL, Abeysekera W, Wimmer VC, Rajasekhar P, Vanyai HK, Whitehead L, Blewitt ME, Rogers K, Vogel AP, Hannan AJ, Smyth GK, Jones NC, Thomas T, Voss AK. KAT6B overexpression in mice causes aggression, anxiety, and epilepsy. iScience. 2025;28(3):10.1016/j.isci.2025.111953

Gocuk SA, Lancaster J, Su S, Jolly JK, Edwards TL, Hickey DG, Ritchie ME, Blewitt ME, Ayton LN, Gouil Q. Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.Genome Research. 2024;34(11):10.1101/gr.279396.124

Bennett C, Pettikiriarachchi A, McLean ARD, Harding R, Blewitt ME, Seillet C, Pasricha S. Serum iron and transferrin saturation variation are circadian regulated and linked to the harmonic circadian oscillations of erythropoiesis and hepatic Tfrc expression in mice. American Journal of Hematology. 2024;99(11):10.1002/ajh.27447

Short KM, Tortelote GG, Jones LK, Diniz F, Edgington-Giordano F, Cullen-McEwen LA, Schröder J, Spencer A, Keniry A, Polo JM, Bertram JF, Blewitt ME, Smyth IM, El-Dahr SS. The Impact of Low Protein Diet on the Molecular and Cellular Development of the Fetal Kidney. 2024;4(12-15):10.1101/2023.12.04.569988

Bergamasco MI, Vanyai HK, Garnham AL, Geoghegan ND, Vogel AP, Eccles S, Rogers KL, Smyth GK, Blewitt ME, Hannan AJ, Thomas T, Voss AK. Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice. Journal of Clinical Investigation. 2024;134(7):10.1172/jci167672

Keenan CR, Coughlan HD, Iannarella N, del Fierro AT, Keniry A, Johanson TM, Chan F, Garnham AL, Whitehead LW, Blewitt ME, Smyth GK, Allan RS. Suv39h-catalyzed H3K9me3 is critical for euchromatic genome organization and the maintenance of gene transcription. Genome Research. 2024;34(4):10.1101/gr.279119.124

Blewitt ME. Mary Lyon and the birth of X-inactivation research. Nature Reviews Genetics. 2024;25(1):10.1038/s41576-023-00655-0

Su S, Xiao L, Lancaster J, Cameron T, Breslin K, Hickey PF, Blewitt ME, Gouil Q, Ritchie ME. A streamlined workflow for long-read DNA methylation analysis with NanoMethViz and Bioconductor. F1000Research. 2024;13:10.12688/f1000research.155204.1

Su S, Xiao L, Lancaster J, Cameron T, Breslin K, Hickey PF, Blewitt ME, Gouil Q, Ritchie ME. A streamlined workflow for long-read DNA methylation analysis with NanoMethViz and Bioconductor. F1000Research. 2024;13:10.12688/f1000research.155204.2

Keniry A, Blewitt ME. Chromatin-mediated silencing on the inactive X chromosome. Development. 2023;150(22):10.1242/dev.201742

Lab research projects

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