Dr Etienne Masle-Farquhar

Conjoint Senior Lecturer

2015 PhB Science

2015 Hons (1st Class)

2021 PhD (UNSW Dean's Award)

Medicine & Health
School of Clinical Medicine

Dr. Etienne Masle-Farquhar runs the "Arthritis Immunogenomics" Team, as a senior postdoc at the Garvan Institute in Sydney, a Conjoint Lecturer at UNSW and Principal Investigator of the Exceptional Responders Program. Since 2017, Etienne has published 12 manuscripts, supervised 9 students, received 11 CIA grants and selected talks at 12 national and 10 international conferences, for his work on acquired and germline immune dysregulation. Etienne’s interests include monogenic immune diseases caused by germline or acquired variants in STAT3, KMT2D, CARD11, UBA1 – and more recently, a primary focus on studying and treating major forms of arthritis and their comorbidities.

Etienne obtained Hons (1st Class; Alexander McTaggart Scholarship) at the ANU, with A/Prof Anselm Enders and Prof Stefan Broer. After completing his PhD with Prof Chris Goodnow and A/Prof Joanne Reed in August 2021 (UNSW Dean's Award for Outstanding Thesis), Etienne completed a postdoc with A/Prof Owen Siggs and in October 2024, joined Prof Joseph Powell’s laboratory as a senior postdoc.

In 2022, Etienne has launched a national collaborative network to collect, biobank and study precious tissue samples from individuals with autoimmune or inflammatory diseases – ERAD. To date, ERAD has consented >250 individuals from 9 hospitals across Australia, including >200 individuals with arthritis who have donated synovial fluid, tissue, bone marrow, bone during joint aspirations and joint replacement surgeries. Within the Powell Lab, and supported by a 2024-2027 NSW OHMR Grant, 2025 Arthritis Australia and 2026-2030 NHMRC Fellowships, Etienne currently runs a 7 person “Arthritis Immunogenomics” team investigating mechanisms and treatments of arthritis, inflammatory and hematological diseases.

Location
Garvan Institute of Medical Research
  • Journal articles | 2025
    Barnet MB; Jackson KJL; Masle-Farquhar E; Russell A; Burnett DL; Chye A; Jara CJ; Faulks M; Mawson A; Peters TJ; Brink R; Wright K; Allen I; Junankar S; Davis ID; Heller G; Khan Z; Bruce J; Yang C; Prokopec S; Pugh T; Behren A; Hold GL; Zhang F; Cooper WA; Gao B; Nagrial A; Joshua AM; John T; Peters G; Hui R; Boyer M; Blinman PL; Kao SC; Cebon J; Goodnow CC, 2025, 'Common inherited loss-of-function mutations in the innate sensor NOD2 contribute to exceptional immune response to cancer immunotherapy', Proceedings of the National Academy of Sciences of the United States of America, 122, http://dx.doi.org/10.1073/pnas.2314258122
    Journal articles | 2024
    Ham H; Jing H; Lamborn IT; Kober MM; Koval A; Berchiche YA; Anderson DE; Druey KM; Mandl JN; Isidor B; Ferreira CR; Freeman AF; Ganesan S; Karsak M; Mustillo PJ; Teo J; Zolkipli-Cunningham Z; Chatron N; Lecoquierre F; Oler AJ; Schmid JP; Kuhns DB; Xu X; Hauck F; Al-Herz W; Wagner M; Terhal PA; Muurinen M; Barlogis V; Cruz P; Danielson J; Stewart H; Loid P; Rading S; Keren B; Pfundt R; Zarember KA; Vill K; Potocki L; Olivier KN; Lesca G; Faivre L; Wong M; Puel A; Chou J; Tusseau M; Moutsopoulos NM; Matthews HF; Simons C; Taft RJ; Soldatos A; Masle-Farquhar E; Pittaluga S; Brink R; Fink DL; Kong HH; Kabat J; Kim WS; Bierhals T; Meguro K; Hsu AP; Gu J; Stoddard J; Banos-Pinero B; Slack M; Trivellin G; Mazel B; Soomann M; Li S; Watts VJ; Stratakis CA; Rodriguez-Quevedo MF; Bruel AL; Lipsanen-Nyman M; Saultier P; Jain R; Lehalle D; Torres D; Sullivan KE; Barbarot S; Neu A; Duffourd Y; Similuk M; McWalter K; Blanc P; Bézieau S; Jin T; Geha RS; Casanova JL; Makitie OM; Kubisch C; Edery P; Christodoulou J; Germain RN; Goodnow CC; Sakmar TP; Billadeau DD; Küry S; Katanaev VL; Zhang Y, 2024, 'Germline mutations in a G protein identify signaling cross-talk in T cells', Science, 385, http://dx.doi.org/10.1126/science.add8947
    Journal articles | 2023
    Barnet M; Masle-Farquhar E; Singh M; Burnett DL, 2023, 'Blood and guts: peripheral immune correlates of immunotherapy-induced colitis', Immunology and Cell Biology, 101, pp. 12 - 15, http://dx.doi.org/10.1111/imcb.12604
    Journal articles | 2023
    Masle-Farquhar E; Jeelall Y; White J; Bier J; Deenick EK; Brink R; Horikawa K; Goodnow CC, 2023, 'CARD11 gain-of-function mutation drives cell-autonomous accumulation of PD-1+ ICOShigh activated T cells, T-follicular, T-regulatory and T-follicular regulatory cells', Frontiers in Immunology, 14, http://dx.doi.org/10.3389/fimmu.2023.1095257
    Journal articles | 2022
    Ho WHJ; Law AMK; Masle-Farquhar E; Castillo LE; Mawson A; O’Bryan MK; Goodnow CC; Gallego-Ortega D; Oakes SR; Ormandy CJ, 2022, 'Activation of the viral sensor oligoadenylate synthetase 2 (Oas2) prevents pregnancy-driven mammary cancer metastases', Breast Cancer Research, 24, http://dx.doi.org/10.1186/s13058-022-01525-z
    Journal articles | 2022
    Masle-Farquhar E; Jackson KJL; Peters TJ; Al-Eryani G; Singh M; Payne KJ; Rao G; Avery DT; Apps G; Kingham J; Jara CJ; Skvortsova K; Swarbrick A; Ma CS; Suan D; Uzel G; Chua I; Leiding JW; Heiskanen K; Preece K; Kainulainen L; O'Sullivan M; Cooper MA; Seppänen MRJ; Mustjoki S; Brothers S; Vogel TP; Brink R; Tangye SG; Reed JH; Goodnow CC, 2022, 'STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation', Immunity, 55, pp. 2386 - 2404.e8, http://dx.doi.org/10.1016/j.immuni.2022.11.001
    Journal articles | 2022
    Masle-Farquhar E; Peters TJ; Miosge LA; Parish IA; Weigel C; Oakes CC; Reed JH; Goodnow CC, 2022, 'Uncontrolled CD21low age-associated and B1 B cell accumulation caused by failure of an EGR2/3 tolerance checkpoint', Cell Reports, 38, http://dx.doi.org/10.1016/j.celrep.2021.110259
    Journal articles | 2022
    Munoz MA; Skinner OP; Masle-Farquhar E; Jurczyluk J; Xiao Y; Fletcher EK; Kristianto E; Hodson MP; O’Donoghue SI; Kaur S; Brink R; Zahra DG; Deenick EK; Perry KA; Robertson AAB; Mehr S; Hissaria P; Mulders-Manders CM; Simon A; Rogers MJ, 2022, 'Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency', Journal of Clinical Investigation, 132, http://dx.doi.org/10.1172/JCI160929
    Journal articles | 2021
    Masle-Farquhar E; Russell A; Li Y; Zhu F; Rui L; Brink R; Goodnow CC, 2021, 'Loss-of-function of Fbxo10, encoding a post-translational regulator of BCL2 in lymphomas, has no discernible effect on BCL2 or B lymphocyte accumulation in mice', Plos One, 16, http://dx.doi.org/10.1371/journal.pone.0237830
    Journal articles | 2020
    Singh M; Jackson KJL; Wang JJ; Schofield P; Field MA; Koppstein D; Peters TJ; Burnett DL; Rizzetto S; Nevoltris D; Masle-Farquhar E; Faulks ML; Russell A; Gokal D; Hanioka A; Horikawa K; Colella AD; Chataway TK; Blackburn J; Mercer TR; Langley DB; Goodall DM; Jefferis R; Gangadharan Komala M; Kelleher AD; Suan D; Rischmueller M; Christ D; Brink R; Luciani F; Gordon TP; Goodnow CC; Reed JH, 2020, 'Lymphoma Driver Mutations in the Pathogenic Evolution of an Iconic Human Autoantibody', Cell, 180, pp. 878 - 894.e19, http://dx.doi.org/10.1016/j.cell.2020.01.029
    Journal articles | 2019
    Skvortsova K; Masle-Farquhar E; Luu PL; Song JZ; Qu W; Zotenko E; Gould CM; Du Q; Peters TJ; Colino-Sanguino Y; Pidsley R; Nair SS; Khoury A; Smith GC; Miosge LA; Reed JH; Kench JG; Rubin MA; Horvath L; Bogdanovic O; Lim SM; Polo JM; Goodnow CC; Stirzaker C; Clark SJ, 2019, 'DNA Hypermethylation Encroachment at CpG Island Borders in Cancer Is Predisposed by H3K4 Monomethylation Patterns', Cancer Cell, 35, pp. 297 - 314.e8, http://dx.doi.org/10.1016/j.ccell.2019.01.004
    Journal articles | 2017
    Burnett DL; Parish IA; Masle-Farquhar E; Brink R; Goodnow CC, 2017, 'Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation', Immunology and Cell Biology, 95, pp. 775 - 788, http://dx.doi.org/10.1038/icb.2017.50
    Journal articles | 2017
    Masle-Farquhar E; Bröer A; Yabas M; Enders A; Bröer S, 2017, 'ASCT2 (SLC1A5)-deficient mice have normal B-cell development, proliferation, and antibody production', Frontiers in Immunology, 8, http://dx.doi.org/10.3389/fimmu.2017.00549
  • Preprints | 2024
    Forkgen J; Masle-Farquhar E; Fontaine Y; Russell A; Ji S; Peters TJ; Qiao Z; Geaghan M; Jackson KJL; Hammond JM; Deveson IW; David C; Lemberg DA; Gupta N; Fuentes-Bolanos N; Mustjoki S; Hwa V; Tangye SG; Gray PE; Siggs OM, 2024, Sequential mosaic variants inKRASandSTAT5Bassociated with a mixed phenotype of two acquired errors of immunity, http://dx.doi.org/10.1101/2024.08.07.24311150
    Conference Papers | 2023
    Barnet MB; Masle-Farquhar E; Russell A; Burnett DL; Jackson KJL; Brink R; Heller G; Yang C; Prokopec S; Behren A; Davis ID; Peters GD; Boyer MJ; John T; Nagrial A; Gao B; Blinman P; Kao SC-H; Cebon JS; Goodnow CC, 2023, 'Association of common inherited NOD2 mutations with exceptional response to immune checkpoint inhibitors', in JOURNAL OF CLINICAL ONCOLOGY, LIPPINCOTT WILLIAMS & WILKINS, IL, Chicago, presented at Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), IL, Chicago, 02 June 2023 - 06 June 2023
    Preprints | 2022
    Masle-Farquhar E; Jackson KJL; Peters T; Al-Eryani G; Singh M; Payne K; Rao G; Apps G; Kingham J; Jara C; Skvortsova K; Swarbrick A; Ma C; Suan D; Uzel G; Chua I; Leiding J; Heiskanen K; Preece K; Kainulainen L; O’Sullivan M; Cooper M; Seppänen MRJ; Mustjoki S; Brothers S; Vogel T; Brink R; Tangye S; Reed J; Goodnow C, 2022, STAT3gain-of-function mutations connect leukemia with autoimmune disease by pathological dysregulation of NKG2DhiCD8 killer T cells, http://dx.doi.org/10.1101/2022.02.11.480027
    Preprints | 2021
    Masle-Farquhar E; Peters T; Jackson KJL; Singh M; Ma C; Suan D; Uzel G; Chua I; Leiding J; Heiskanen K; Preece K; Kainulainen L; O’Sullivan M; Cooper M; Seppänen MRJ; Mustjoki S; Brothers S; Vogel T; Brink R; Tangye S; Reed J; Goodnow C, 2021, Overactive STAT3 drives accumulation of disease-associated CD21lowB cells, http://dx.doi.org/10.1101/2021.12.20.473595
    Preprints | 2021
    Masle-Farquhar E; Peters T; Miosge L; Parish I; Weigel C; Oakes C; Reed J; Goodnow C, 2021, Uncontrolled CD21low age-associated and B1 B cell accumulation caused by failure of an EGR2/3 tolerance checkpoint, http://dx.doi.org/10.1101/2021.07.01.450650
    Conference Papers | 2021
    Masle-Farquhar E; Peters T; Oakes C; Reed J; Goodnow CC, 2021, 'EGR2 and EGR3 function in a cell-intrinsic and partially redundant manner to suppress the accumulation of B1a cells and CD21(low) CD23(low) age-associated B cells', in JOURNAL OF IMMUNOLOGY, AMER ASSOC IMMUNOLOGISTS, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000713665800392&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2020
    Masle-Farquhar E; Payne K; Singh M; Rao G; Al-Eryani G; Jara C; Jackson K; Brink RA; Tangye S; Reed J; Goodnow CC, 2020, 'The effects of germline STAT3-activating mutations from autoimmunity and lymphoid malignancy on mouse and human T cells', in JOURNAL OF IMMUNOLOGY, AMER ASSOC IMMUNOLOGISTS, HI, Honolulu, presented at Annual Meeting of the American-Association-of-Immunologists - Immunology 2020, HI, Honolulu, 08 May 2020 - 12 May 2020, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000589972401141&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Preprints | 2020
    Masle-Farquhar E; Russell A; Li Y; Zhu F; Rui L; Brink R; Goodnow C, 2020, Loss-of-function ofFbxo10, encoding a post-translational regulator of BCL2 in lymphomas, has no discernible effect on BCL2 or B lymphocyte accumulation in mice, http://dx.doi.org/10.1101/2020.08.05.237545
    Conference Abstracts | 2019
    Masle-Farquhar E; Payne K; Jackson K; Rao G; Singh M; El-Eryani G; Brink R; Tangye S; Reed J; Goodnow C, 2019, 'The effects of germline STAT3-activating mutations from autoimmunity and lymphoid malignancy on mouse and human T cell development and function', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY, PEOPLES R CHINA, Beijing, Vol. 49, pp. 901 - 901, presented at 17th International Congress of Immunology of the International-Union-of-Immunological-Societies (IUIS), PEOPLES R CHINA, Beijing, 19 October 2019 - 23 October 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000490026902546&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

2026: NHMRC Investigator Grant (EL1) ($688,405); 'Blood and bone: pathogenic leukocytes and acquired mutations within arthritic joints'.

2025: Australia and New Zealand Society of Immunology (ASI) Breakthrough Award ($50,000): 'Understanding synovial inflammation in osteoarthritis and identifying prognostic biomarkers for pain and loss of mobility'.

2025: Arthritis Australia Fellowship; Chief Investigator A: 'Leukocytes, acquired mutations and biomarkers in osteoarthritis.'

2025: St Vincent's Clinic Research Foundation (SVCRF) Grant ($50,000); Chief Investigator C: 'Cellular and molecular drivers of osteoarthritis: from Bedside to Bench'.

2024: NSW Office for Health and Medical Research (OHMR) Grant ($500,000): Chief Investigator A: 'Blood and bone: single-cell genomics to reveal disease mechanisms, inform treatment selection and monitoring of inflammatory arthritides.'

2024: AIFA Early Career Research Grant ($10,000); Chief Investigator A: 'Revealing the B cell intrinsic effects of pathogenic KMT2D mutations in Kabuki syndrome (KS) and Cold Agglutinin Disease (CAD)'.

2024: Exceptional Responders Seed Grant ($50,000); Chief Investigator A: 'Studying synovial inflammation and identifying novel biomarkers in osteoarthritis'.

2024: St Vincent's Clinic Research Foundation (SVCRF) Grant ($50,000); Chief Investigator A: 'Multiomic study of synovial fluid to reveal molecular and cellular triggers of arthritic flares'.

2024: NHMRC Ideas Grant ($1,094,640); Associate Investigator: 'Harnessing pathogenic immune cells to develop a new diagnostic for non-responders and refractory conditions in Celiac Disease'.

2024: Australia and New Zealand Society of Immunology (ASI) Career Advancement Award: 'Genomic and single-cell study of acquired variants in Cold Agglutinin Disease'.

2022: Triple I Sphere Grant ($75,000); Chief Investigator B: 'Elucidating Cellular and Molecular drivers of Rheumatoid Arthritis disease flares'.

2021: Millenium Science Spatial Pioneers Fellowship; Chief Investigator: 'Spatial transcriptomics to elucidate mechanisms driving Inclusion Body Myositis'.

2018-ongoing: Philanthropic support (Inclusion Body Myositis; Rheumatoid Arthritis; Systemic Sclerosis).

2018-ongoing: >15 travel awards to present at international and national conferences.

2024: Breakthrough Award, Australia and New Zealand Society of Immunology (ASI)

2023: Publication of the Quarter, UNSW St Vincent's Clinical School; Travel Award, Federation of Clinical Immunology Societies (FOCIS) Annual General Meeting, Boston, USA.

2022:  Triple I Sphere Grant to study Rheumatoid Arthris Flares; ICIS-Pfizer Junior Investigator Award; Travel Award for the B cell-T cell Keystone 2022, Hannover, Germany; Travel Award for the ASI Annual General Meeting, Melbourne, Australia.

2021:  Dean’s Award for Outstanding Thesis, UNSW, Sydney; Oral Presentation Prize, Federation of Immunological Societies of Asia-Oceania (FIMSA), FIMSA Annual Meeting, Seoul, Korea; Travel Award, FIMSA Annual Meeting 2021, Seoul, Korea; Best Postdoc Oral Presentation, St Vincent’s Campus Postdoc Symposium, Sydney, Australia.

2020:  Best Student Oral Presentation, St Vincent’s Campus Research Symposium, Sydney, Australia.

2019:  Travel Award, 2nd Human & Translational Immunology Conference, Kos Island, Greece; Travel Award, 2019 ThymE Conference, Weizmann Institute of Science, Rehovot, Israel; Travel Award, World Congress on Inflammation, Sydney, Australia.

2018:  Stuart Furler Travel Award, Garvan Institute of Medical Research; Travel Award, Australian and New Zealand Society of Immunology (ASI) Annual Scientific Meeting.

2017:  Shortlist for 2017 Writing NSW Writer & Scientist Grant, “Is winter coming? Immunology as a game of thrones”; 3rd place, 3 Minute Thesis (3MT), Garvan Institute of Medical Research.

2016:  Australian Postgraduate Award (APA) scholarship, for full duration of PhD undertaken at the Garvan Institute of Medical Research; Chancellor’s Letter of Commendation for Outstanding Academic Performance in 2015, Australian National University, Canberra.

2015:  Awarded the Alexander McTaggart Memorial Scholarship, Australian National University, Canberra, Australia.

2011:  French Baccalauréat Mention Très Bien (equivalent ATAR: 98).

2009: "Dux" of Telopea Park School, Canberra, Australia: Best Overall Academic Performance over the course of Secondary Education.

Etienne's team studies the molecular and cellular mechanisms driving major forms of arthritis (RA, PsA, SpA, Gout, OA), leveraging a unique Biobank of blood and affected tissues from hundreds of individuals with autoimmune, inflammatory and/or hematological conditions - with a major emphasis on arthritis and its comorbidities.

The team's studies focus on:

  1. Molecular and cellular mechanisms by which germline and particularly somatic (=acquired) mutations drive autoimmune, inflammatory and hematological diseases.
  2. Interplay between stress ligands and cytotoxic T cells within tissues.
  3. Cross-talk between immune and non-immune cells in driving variable levels of pain and tissue damage.
  4. Cutting-edge single cell, immunology (eg high parameter flow and microscopy) and genomics methods to reveal molecular and cellular mechanisms of disease.
  5. Close clinical parternships to provide unique samples, clinical metadata, rapid ability to translate findings - and preclinical mouse models to test new mechanisms and treatment modalities.

Student, research assistant and postdoc submissions are strongly encouraged. This team has grown from 2 to 7 people between 2023 and 2025.

Available projects include:

  1. Expanded, persistent CD8 cytotoxic T cell clones driving unpredictable flares and joint damage in rheumatoid arthritis (RA).
  2. CHIP-mutant myeloid cells in the pathogenesis of gout and OA.
  3. New roles for inflammation and acquired mutations in OA pathogenesis, variable levels of joint pain and comorbidities.
  4. Pre-clinical testing of novel biologics, created in parnership with Garvan Biologics Platform, in mouse models of arthritis.
  5. Cell-intrinsic and -extrinsic effects of CARD11 and KMT2D mutations in BENTA, Kabuki Syndrome and primary Cold Agglutinin Disease.
  6. Muscle CD8 T cell infiltration and disease mechanisms in Inclusion Body Myositis.

 

My Research Supervision

Current primary supervisions and direct line manager for:

2 x Honours students

1 x PhD student

1 x research assistant

1 x project coordinator

2 x clinical trials coordinators

2 x research interns

 

Current secondary supervisions:

1 x PhD student