MacArthur’s lab seeks to accurately identify DNA variants affecting gene function and human disease risk from large-scale datasets containing genetic information from more than 90,000 human genomes. He also studies transcriptome sequencing (RNA-seq) approaches to better understand the impact of variants on human gene function. His lab leads an international consortium, the Exome Aggregation Consortium (ExAC), that has compiled the largest collection of sequences of the protein-coding region (exome) of the human genome.
Finally, his research brings these approaches together to discover disease-causing mutations in patients with rare severe diseases, with a particular focus on neuromuscular diseases such as muscular dystrophy. He has already used these techniques to diagnose several patients, and is working with collaborators to design genetic tests and treatments for the patients and their families.
MacArthur completed his Ph.D. at the Institute for Neuromuscular Research in Sydney, Australia, where he studied a loss-of-function variant in the human ACTN3 gene associated with variation in muscle strength and athletic performance. He later served as a postdoctoral fellow at the Wellcome Trust Sanger Institute in Hinxton, UK, where he led the annotation of gene-disrupting (“loss-of-function”) variants as part of the 1000 Genomes Project Consortium.