Matthew Brown
Chief Scientific Officer Genomics England
Matt Brown is a clinician-scientist who trained initially in medicine and rheumatology in Sydney, Australia before completing a Doctorate of Medicine based at University of Oxford, focusing on genetics of ankylosing spondylitis. In 2013 he was elected to Fellowship of the Australian Academy of Sciences in recognition for his achievements in genetics research. In 2019 he was appointed to the position of Chief Scientific Officer of Genomics England. He continues to work in genetics of human diseases, with a particular focus on common and rare bone and joint diseases, and in cancer genomics and personalized medicine. He continues to practice rheumatology, with a particular focus on spondyloarthritis.
Seminars
Wednesday 1st April 2026
Improving Rare Disease Diagnostics With Multiomics
9:50 am
- Short-read whole genome sequencing has revolutionised the diagnosis of rare diseases in clinical services, but nonetheless still only 25-30% of patients achieve a diagnosis
- New ‘omics approaches including long-read sequencing and epigenetic profiling, transcriptomics, proteomics, and metabolomics offer the potential to increase this proportion, including in non-European ancestry patients
- Genomics England’s rare disease program pilot analyses suggest that using combinations of these approaches may lift the overall proportion of rare disease patients receiving a genetic diagnosis to over 40%, of great benefit to the families concerned
