How the epigenetic regulator SMCHD1 works and how to target it to treat disease

How the epigenetic regulator SMCHD1 works and how to target it to treat disease

Project details

The epigenetic regulator SMCHD1 was recently found to be mutated in the muscular dystrophy FSHD2, and also contribute to disease severity in related FSHD1.

We are actively studying how SMCHD1 functions as an epigenetic repressor, using genomics, biochemical and biophysical assays and structural biology approaches to reveal how it is able to perform its role to switch genes off. We are also studying how SMCHD1 function may be targeted to treat FSHD and other diseases where SMCHD1 plays a role, such as the imprinting disorder Prader-Willi syndrome.

Student projects involve different aspects of this work, spanning how SMCHD1 works at the chromatin, biochemical assays and targeting with small molecules. 

About our research group

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. Our 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.  

Our lab comprises postdoctoral fellows, research assistants and students. Each project tends to involve both staff and students working collaboratively using genomics, imaging and molecular biology. 



Professor Marnie Blewitt

Marnie Blewitt
Joint Division Head

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