Professor Marnie Blewitt

Professor Marnie Blewitt



Marnie Blewitt



BSc (Hons) PhD Sydney

Joint Division Head

We study how genes are turned on and off, a process called epigenetic modification that is critical for development. The DNA of a fertilised egg contains all the information to form an adult. Proteins called epigenetic modifiers turn different genes on and off throughout development. Disease can occur if this process fails.

Despite their importance, most human epigenetic modifiers likely remain unknown. My lab is identifying potential new epigenetic modifiers. This is revealing the role of epigenetics in development and disease. Our ultimate aim is to develop treatments for disease that manipulate epigenetic modifiers, where our focus is activating or inhibiting the epigenetic regulator SMCHD1.

Research interest

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, embryonic and haematopoietic stem cell activity, 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. 

Three researchers in the laboratory

A genetic change discovered in babies born without a nose could help to prevent a debilitating and incurable form of muscular dystrophy.

Animated cells

Coursera course: This course covers the principles of epigenetic control of gene expression, how epigenetic control contributes to cellular differentiation and development, and how it goes wrong in disease.