Activating SMCHD1 to treat Facioscapulohumeral muscular dystrophy

Activating SMCHD1 to treat Facioscapulohumeral muscular dystrophy

The opportunity

  • There is currently no specific treatment available for Facioscapulohumeral muscular dystrophy (FSHD)
  • SMCHD1 possesses enzymatic (ATPase) activity; altered ATPase activity has been shown in disease
  • SMCHD1 activation is a potential FSHD therapy

FSHD is a genetic muscle disorder mostly affecting muscles of the face, shoulder blades and upper arms. It is estimated to affect about 1 in 7500-20,000 individuals worldwide. FSHD is caused by DUX4 expression, which is normally silenced in adult cells by SMCHD1 and other epigenetic repressors.


Scientific diagram


The technology

We have shown that SMCHD1 contains a GHKL-ATPase domain and confirmed that it possesses enzymatic activity. Decreased ATPase activity has been found in FSHD patients suggesting that activation of SMCHD1 activity could be a potential FSHD therapy.

Opportunities for partnership 

We are seeking partners to co-develop SMCHD1 activators for FSHD therapy.

We have:

  • Foremost experts in SMCHD1, a world class structural biology program and an understanding of SMCHD1 structure  
  • Good quality recombinant protein and validated screening assays

We are seeking partners:

  • With culture systems of human muscle cell systems to validate activator hits
  • To invest in our medicinal chemistry program to follow up on an upcoming fragment-based drug discovery campaign

Scientific team

Associate Professor Marnie Blewitt, Joint Head, Epigenetics and Development division
Associate Professor James Murphy, Head, Inflammation division


Dr Janet Yeo, Business Development Associate

Phone: +61 3 9345 2673