Dr. Joshua Clayton completed his PhD in Genetics at the University of Western Australia in 2018, which focused on investigating how microRNAs and enhancers regulate complement receptor gene expression in immune cells. Since joining the team of Prof. Laing, he has contributed to a range of successful projects, including: developing methods to identify and characterise disease-causing short tandem repeat expansions, developing splicing assays to determine whether variants of unknown significance impact mRNA splicing, developing cell and animal models of neuromuscular disease, improving CRISPR/Cas9 editing of primary myoblasts, and developing and testing therapies for the treatment of neuromuscular diseases.

He has also worked closely with other team members and collaborators to help uncover the genes and mechanisms that cause disease in patients with neuromuscular disorders using whole exome and/or genome sequencing and subsequent functional analyses. As an extension of his skills gained throughout his PhD, Dr. Clayton also actively collaborates with Prof. Alistair Forrest to further our understanding of how regulatory elements such as enhancers regulate gene expression in skeletal muscle.

Currently, his main research aims are to:

1. Discover new genes and mechanisms that cause neuromuscular disease.

2. Develop stem cell-based models of skeletal muscle disease.

3. Develop therapies for neuromuscular disease caused by mutations in the skeletal muscle alpha-actin (ACTA1) gene.