Stroud Group


Head of Research Group

Associate Professor David Stroud

david.stroud [at]

View researcher's webpage

+61 3 834 47316


Research Overview

View Associate Professor Stroud's latest PubMed publications listing here

View Associate Professor Stroud's latest ORCiD publications listing here


Research in the Stroud laboratory aims to raise the diagnostic rate for monogenic rare diseases, including mitochondrial disease, understand rare disease pathology, and ultimately improve human health through the application new mass-spectrometry based technologies to functional genomics.



We work within 3 primary research themes:

i.  Mass-spectrometry based functional testing for monogenic rare disease.

We aim to increase the diagnostic yield for monogenic (caused by mutations in one gene) rare disease through the development and translation of new mass-spectrometry based tests.  The key issue in diagnosis of rare diseases is the extreme genetic heterogeneity that underpins the >7,000 rare diseases.  Although individually rare, as a group, rare diseases collectively impact ~8% of Australians (see:  Importantly, most rare diseases are subject to the same diagnostic challenges.  Currently, the diagnostic workup for most suspected rare diseases involves a first round of genomic sequencing.  Genomic sequencing has transformed rare disease diagnosis, raising the diagnostic yield to about 60%.  Despite this impressive outcome, up to half of patients remain undiagnosed, and those that do receive a diagnosis often wait months to years.  The key challenge in increasing diagnostic yield is confirming which of the hundreds of variants (mutations) detected through genome sequencing are pathogenic.  This can be a time consuming and costly process as it often requires development of biochemical tests for each gene.  We have leveraged the next generation of mass-spectrometry and proteomics technologies to pioneer a new functional test suitable for many types of monogenic rare diseases, including mitochondrial disease.  Proteomics is capable of 'sequencing' all proteins (the products of genes) in a single test, making it broadly applicable to confirming which of the variants detected in clinical genome sequencing are pathogenic.  To date we have used this new technology to assist in the molecular diagnosis of >30 individuals with confirmed rare monogenic disease.  Our current work is focused on standardising and benchmarking our approach with view toward its development as a NATA/RCPA accredited genetic pathology test.




Research on diagnostic proteomics in the Stroud lab is supported by the Mito Foundation

ii.  Developing gene-edited cell-based models to understand rare disease pathology.

Functional studies in cell-based models are critical for confirming the pathogenicity of novel variants and the involvement of novel disease genes in disease pathology.  In this research theme, we are coupling proteomics-based approaches with gene-edited (CRISPR/Cas9) cell-based model systems to understand rare disease pathogenesis, with a focus on defects in multi-protein complexes relevant to mitochondrial disease, but also investigating other complexes with human disease relevance.  Much of the work overlaps with the above diagnostic studies and comprises follow-up studies where novel disease genes are functionalised, while other projects in this theme are aimed at understanding fundamental concepts with relevance to rare disease.


iii.  Understanding mitochondrial function through systems biology and multi-omics.

This research theme aims to build on the mass-spectrometry method development of the above themes and combining it with transcriptomics (RNAseq), lipidomics and metabolomics to gain a better clearer understanding of the role mitochondria play in disease pathogenesis and potentially develop new methods to aid rare disease diagnosis.



Dr Daniella Hock, Postdoctoral researcher

Dr Nikeisha Caruana, Postdoctoral researcher

Dr Tanavi Sharma, Postdoctoral researcher

Karena Last, Lab manager

Linden Muellner-Wong, PhD student

Roopasingam Kugapreethan, PhD student

David Robinson, PhD student

Liana Semcesen, PhD student

Minhao Yang, Honours student



Prof David Thorburn, Murdoch Children's Research Institute

Prof John Christodoulou, Murdoch Children's Research Institute

A/Prof Diana Stojanovski, University of Melbourne

Prof Mike Ryan, Monash University

A/Prof Lena Ho, Duke-NUS

Prof Danny Hatters, University of Melbourne

Prof Brett Collins, University of Melbourne

Prof David Bishop, Victoria University



View Associate Professor Stroud's recent awards here.


Research Opportunities

This research project is available to PhD students, Honours students, Master of Biomedical Science, Post Doctor Researchers to join as part of their thesis.

Please contact the Research Group Leader to discuss your options.


Research Publications

See below for a list of key publications from the lab.

1.  Stroud DA, Surgenor EE Formosa LE, Reljic B, Frazier A, Dibley MG, Osdellame LD, Stait T, Beilharz TH, Thorburn DR, Salim A and Ryan MT (2016) Accessory subunits are integral for assembly and function of human mitochondrial complex I. Nature 538: 123-126.

2.  Hock DH, Reljic B, Ang CS, Muellner-Wong L, Mountford HS, Compton AG, Ryan MT, Thorburn DR, Stroud DA (2020) HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV. Mol. Cell Proteomics  19:1145-1160

3.  Granata C, Caruana NJ, Botella J, Jamnick NA, Huynh K, Kuang J, Janssen HA, Reljic B, Mellett NA, Laskowski A, Stait TL, Frazier AE, Coughlan MT, Meikle PJ, Thorburn DR, Stroud DA, Bishop DJ (2021) High-intensity training  induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content. Nat. Commun. 12,1-18

4. Robinson DRL, Hock DH, Muellner-Wong L, Kugapreethan R, Reljic B, Surgenor EE, Rodrigues CHM, Caruana NJ, Stroud DA (2022) Applying Sodium Carbonate Extraction Mass Spectrometry to Investigate Defects in the Mitochondrial Respiratory Chain. Front. Cell Dev. Biol. 10:786268

5. Liang C, Zhang S, Robinson D, Ploeg MV, Wilson R, Nah J, Taylor D, Beh S, Lim R, Sun L, Muoio DM, Stroud DA, Ho L.  (2022) Mitochondrial microproteins link metabolic cues to respiratory chain biogenesis Cell Rep.  40(7):111204. doi: 10.1016/j.celrep.2022.111204

6.  Fernández-Vizarra E, López-Calcerrada S, Sierra-Magro A, Pérez-Pérez R, Formosa LE, Hock DH, Illescas M, Peñas A, Brischigliaro M, Ding S, Fearnley IM, Tzoulis C, Pitceathly RDS, Arenas J, Martín MA, Stroud DA, Zeviani M, Ryan MT, Ugalde C.  (2022) Two independent respiratory chains adapt OXPHOS performance to glycolytic switch.  Cell Metab. 34(11):1792-1808.e6. doi:10.1016/j.cmet.2022.09.005.

7.  Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, Amor DJ, Fahey MC, Simons C, Wibrand F, Mootha VK, Lek M, Lunke S, Stark Z, Østergaard E, Christodoulou J, Thorburn DR, Stroud DA, Compton AG.  (2023) Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease. Hum. Mol. Genet. 32(15):2441-2454. doi: 10.1093/hmg/ddad069.

8.  Healy MD, McNally KE, Butkovič R, Chilton M, Kato K, Sacharz J, McConville C, Moody ERR, Shaw S, Planelles-Herrero VJ, Yadav SKN, Ross J, Boruci U, Palmer CS, Chen KE, Croll TI, Hall TA, Caruana NJ, Ghai R, Nguyen THD, Heesom KJ, Saitoh S, Berger I, Schaffitzel C, Williams TA, Stroud DA, Derivery E, Collins BM, Cullen PJ.  (2023) Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome. Cell. 186(10):2219-2237.e29.  doi: 10.1016/j.cell.2023.04.003.

9.  Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, Hunter MF, Barnett CP, Wallis M, Kamien B, Tan TY, Freckmann ML, Chong B, Phelan D, Francis D, Kassahn KS, Ha T, Gao S, Arts P, Jackson MR, Scott HS, Eggers S, Rowley S, Boggs K, Rakonjac A, Brett GR, de Silva MG, Springer A, Ward M, Stallard K, Simons C, Conway T, Halman A, Van Bergen NJ, Sikora T, Semcesen LN, Stroud DA, Compton AG, Thorburn DR, Bell KM, Sadedin S, North KN, Christodoulou J, Stark Z.  (2023) Integrated multi-omics for rapid rare disease diagnosis on a national scale. Nat. Med 29(7):1681-1691. doi: 10/1038/s41591-023-02401-9.

Research Projects

Stroud laboratory: Projects