Associate Prof. Marnie Blewitt

About: Associate Professor Marnie Blewitt studies 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. Marnie’s lab is identifying potential new epigenetic modifiers. This is revealing the role of epigenetics in development and disease. The ultimate aim is to develop treatments for disease that manipulate epigenetic modifiers, where our focus is activating or inhibiting the epigenetic regulator SMCHD1.

The lab aim to understand the molecular mechanisms behind epigenetic silencing. They 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, they seek to understand how epigenetic modifiers elicit transcriptional silencing, and how this relates to functional outcomes for the cell. The lab 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, they soon hope to understand how it goes awry in disease. This may reveal how they can manipulate epigenetic state for therapeutic gain.

The current focus is the epigenetic regulator SMCHD1. They 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.