David Stroud

Associate Professor David Stroud serves as an NHMRC Investigator Fellow and head of the Stroud Laboratory for Rare Disease Functional Genomics within the Department of Biochemistry and Pharmacology, School of Biomedical Sciences, Faculty of Medicine, Dentistry and Health Sciences at the University of Melbourne. Located at the Bio21 Molecular Science and Biotechnology Institute, his research addresses the challenge of diagnosing monogenic rare diseases, which impact over 7,000 conditions affecting approximately 8% of Australians. The laboratory develops and translates mass-spectrometry-based proteomics technologies to confirm pathogenic genetic variants identified through genomic sequencing, particularly in mitochondrial diseases where genetic heterogeneity complicates diagnosis. This approach has enabled the molecular diagnosis of over 30 individuals with confirmed rare monogenic diseases to date. Key research themes include mass-spectrometry functional testing to boost diagnostic yields, CRISPR/Cas9 gene-edited cell models to validate variant pathogenicity and explore disease mechanisms in multi-protein complexes, and integrative multi-omics analyses encompassing proteomics, transcriptomics, lipidomics, and metabolomics to dissect mitochondrial roles in pathology and devise novel diagnostics. Supported by the Mito Foundation, these efforts aim to standardize tests as NATA/RCPA-accredited clinical genetic pathology services.

Stroud's contributions have garnered substantial recognition and funding, including a prestigious $1.6 million NHMRC Investigator Grant, $4.6 million from the Medical Research Future Fund and NHMRC, and over $675,000 in Mito Foundation grants since an initial 2015 Incubator Grant that pioneered quantitative proteomics for mitochondrial diagnostics. As Australia's leading expert in this field, his work has elevated diagnostic rates from around 50% to 70% in research settings and fosters collaborations with institutions like the Murdoch Children's Research Institute and Victorian Clinical Genetics Services for clinical validation. Select key publications encompass 'Accessory subunits are integral for assembly and function of human mitochondrial complex I' (Stroud et al., Nature, 2016), 'HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV' (Hock et al., Molecular & Cellular Proteomics, 2020), 'High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle' (Granata et al., Nature Communications, 2021), 'Applying Sodium Carbonate Extraction Mass Spectrometry to Investigate Defects in the Mitochondrial Respiratory Chain' (Robinson et al., Frontiers in Cell and Developmental Biology, 2022), and 'Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants' (Amarasekera et al., Human Molecular Genetics, 2023). These advancements promise accelerated diagnoses and deeper insights into rare disease pathogenesis.

Professional Email: david.stroud@unimelb.edu.au