OSCR

Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile.

Overview

Authors: Anjali K Henders1, Laura Ziser1, Fleur C Garton1, Lorel Adams2, Karalyn Ernst3, Sarah Furlong2, Judith Anne Heads2, Susan Heggie4, Ruth Krasniqi5, Madhura Bhadravathi Lokeshappa1, Srestha Mazumder6, Elyshia McNamara7, Amanda MacShane7, Linda Mekhael8, Lorelle Nunn1, Bronwen Orden8, Julie Ryder8, Kathryn Thorpe4, Marie Toubia3, Leanne M Wallace1
and 22 other authorsDina Wickremeratne9, Emma Windebank5, Beben Benyamin10, Shyuan Ngo9,11, Garth Nicholson8,12,13, Roger Pamphlett13,14,15,16, Frederik J Steyn11, Peter M Visscher1,17, Kelly L Willams2, Robert Henderson4,18, Matthew C Kiernan6,19,20, Nigel Laing7, Susan Mathers5, Pamela A McCombe18,21, Merrilee Needham22,23,24, Dominic Rowe2, David Schultz3, Paul Talman25, Steve Vucic8,12,26, Ian P Blair2, Allan F McRae1, Naomi R Wray1,27
ORCID iDs: Anjali K Henders, Fleur C Garton, Sarah Furlong, Judith Anne Heads, Leanne M Wallace, Roger Pamphlett, Peter M Visscher, Merrilee Needham, Dominic Rowe, Steve Vucic, Ian P Blair, Naomi R Wray
27 affiliations
  1. Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia
  2. Motor Neuron Disease Research Centre, Macquarie University, Sydney, New South Wales, Australia
  3. Department of Neurology, Flinders Medical Centre, Bedford Park, South Australia, Australia
  4. Department of Neurology, Royal Brisbane and Women’s Hospital, Herston, Queensland, Australia
  5. Neurology, Calvary Health Care Bethlehem, Caulfield South, Victoria, Australia
  6. Neuroscience Research Australia, Randwick, New South Wales, Australia
  7. Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia
  8. Australia Brain and Nerve Research Center, Concord Hospital, Sydney, New South Wales, Australia
  9. Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Queensland, Australia
  10. Australian Centre for Precision Health, University of South Australia, Adelaide, South Australia, Australia
  11. School of Biomedical Sciences, The University of Queensland, Saint Lucia, Queensland, Australia
  12. Concord Clinical School, Concord Hospital, Sydney, New South Wales, Australia
  13. Sydney Medical School, The University of Sydney, New South Wales, Sydney, New South Wales, Australia
  14. Pathology, The University of Sydney, Sydney, New South Wales, Australia
  15. Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia
  16. Department of Neuropathology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia
  17. Nuffield Department of Population Health, University of Oxford, Oxford, UK
  18. University Of Queensland Centre For Clinical Research, Herston, Queensland, Australia
  19. Department of Neurology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia
  20. Neuroscience, The University of New South Wales, Sydney, New South Wales, Australia
  21. UQ Centre for Clinical Research, University of Queensland, Brisbane, Queensland, Australia
  22. Department of Neurology, Fiona Stanley Hospital, Perth, Western Australia, Australia
  23. CMMIT, Murdoch University, Murdoch, Western Australia, Australia
  24. School of Medicine, University of Notre Dame, Perth, Western Australia, Australia
  25. University Hospital, Deakin University Faculty of Science and Technology, Geelong, Victoria, Australia
  26. Concord Clinical School, Concord Hospital, Concord, New South Wales, Australia
  27. Department of Psychiatry, University of Oxford, Oxford, UK
Institutions: The University of Queensland (Australia); Institute for Molecular Bioscience (Australia); Macquarie University (Australia); Flinders Medical Centre (Australia); Royal Brisbane and Women's Hospital (Australia); Calvary Health Care Bethlehem (Australia); Neuroscience Research Australia (Australia); Harry Perkins Institute of Medical Research (Australia); Concord Repatriation General Hospital (Australia); University of South Australia (Australia); The University of Sydney (Australia); Royal Prince Alfred Hospital (Australia); University of Oxford (United Kingdom); UNSW Sydney (Australia); Murdoch University (Australia); Fiona Stanley Hospital (Australia); The University of Notre Dame Australia (Australia); Deakin University (Australia); Geelong Hospital (Australia)
Journal: BMJ open, volume 16, issue 6, article e110906
Dates: received 15 September 2025; accepted 25 February 2026; published online 18 June 2026
Type: Research article · Language: English
License: CC BY
Identifiers: DOI 10.1136/bmjopen-2025-110906 · PMID 42315356 · PMCID PMC13288974 · OpenAlex W7165158595
Open access: gold, a free copy (OpenAlex)
Status: code on request
Categories: human (organism), other condition (population)
Keywords: GENETICS, Longitudinal studies, Motor neurone disease
MeSH: Amyotrophic Lateral Sclerosis*, Genomics*, Adult, Aged, Australia, C9orf72 Protein, Cohort Studies, Female, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide (* major topic)
Journal subjects: Genetics and Genomics
Topic: Amyotrophic Lateral Sclerosis Research (Neurology, Medicine), according to OpenAlex
Funding: Halpin Trust; MND and Me (Equipment Grant (Henders), Scott Sullivan MND Fellowship (Garton) and 2015-20); FightMND (Infrastructure Support (2019-2025), MCR Fellowship 2020-2023 (Ngo)); National Health and Medical Research Council (NHMRC Fellowship 10884417 (Benyamin), NHMRC Fellowship 121962 (Garton), NHMRC Fellowship Grants 613602 (Wray), NHMRC Invesitgator Grant 1173790 (Wray), NHMRC Investigator Grant 1176913 (Blair), NHMRC Partnership Grant 1153439 (Kiernan), NHMRC Program Grant 1113400 (Wray)); Nerve Connection (Equipment Grant (Henders)); Motor Neurone Disease Research Australia (Ice-Bucket Challenge)
Citations: not cited yet (Europe PMC); 33 references in the paper

Abstract

Purpose: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative motor neuron disease (MND) with heterogeneity in disease onset, progression and treatment response. The Strategic ALS Australia–Systems Genomics Consortium (SALSA-SGC) was established in recognition of the need for large data sets of clinical data matched with biological samples to enable and foster ALS research and better understanding of aetiology and biological mechanisms. SALSA-SGC brought together the major Australian MND clinics to set up sustainable infrastructure that could facilitate long-term human ALS research and clinical trials nationally and internationally.

Participants: Between April 2016 and December 2024, SALSA-SGC recruited 1813 participants, including 1386 ALS/MND cases, 388 controls and 39 others (asymptomatic relatives and ALS mimics). Clinical data and biospecimens are available for 1333 and 1189 ALS cases, respectively, with longitudinal data spanning 4442 total clinic visits and 3201 samples. An open-access online data explorer showcases collected datasets.

Findings to date: Detailed clinical and questionnaire data allow an in-depth description of the cohort, informing clinical and health policy research. Screening for known ALS large-effect risk variants identified 125 mutation carriers (11.5% from N=1059), including 70 with C9orf72 expansions. Single Nucleotide Polymorphism (SNP)-array data (N=1088 cases; N=244 controls) have supported multiple published studies. SALSA-SGC resources are actively used by national and international researchers.

Future plans: Ongoing efforts aim to expand recruitment into regional Australia and enhance sample processing for cell-based studies. The SALSA-SGC resource is accessible by researchers under agreements governed by participant consent, human ethics committee guidelines and agreed use of data and samples.

Reproduced under the paper's license (CC BY), from the paper cited above.

Code

The paper says that its authors' code is available on request: it was not published with the paper, so there is nothing to verify.

The paper's code and data availability statement is in the Data section.

Tracing map

A tracing map links a paper to the code its authors published: this paper has none (its code is available on request), so it has no map.

Data

No dataset and no data link were found in the paper.

Data availability statement

Data are available on reasonable request.

Reproduced under the paper's license (CC BY), from the paper cited above.

Collaboration and data availability

Guided by the participant consent process, SALSA-SGC actively encourages the use of this resource by the research community to accelerate research towards prevention and treatments of ALS. The consortium operates under an approved governance framework, including authorship guidelines (online supplemental material 3) and encourages that data generated using the resource be made available to other researchers, subject to necessary de-identification and ethical requirements. Data can be explored through a purpose-built online data explorer (https://salsasgc.org/explore), which generates dynamic versions of the Figures presented in this paper. The explorer tool enables queries by key filters such as age, gender, gene mutation status and clinical variables. Queries can be saved and submitted alongside formal data access application. All requests are reviewed by a scientific committee, and before the data are made available, appropriate research governance agreements are established. Access to data and/or samples is available to bona fide research and commercial organisations, with biological samples use subject to approval by the relevant site neurologist/sample owner. Some published GWAS and MWAS data have been deposited in dbGAP (phs002068.v1.p1). Access to standard operating procedures, laboratory protocols and analysis scripts is available on request.

Reproduced under the paper's license (CC BY), from the paper cited above.

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 1, 27 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 42 authors, 3 keywords, 12 MeSH terms, 6 funders, 32 references.

Cite

This paper

Henders, A. K., Ziser, L., Garton, F. C., Adams, L., Ernst, K., Furlong, S., Heads, J. A., Heggie, S., Krasniqi, R., Bhadravathi Lokeshappa, M., Mazumder, S., McNamara, E., MacShane, A., Mekhael, L., Nunn, L., Orden, B., Ryder, J., Thorpe, K., Toubia, M., . . . Wray, N. R. (2026). Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile. BMJ open, 16(6), e110906. https://doi.org/10.1136/bmjopen-2025-110906

BibTeX

@article{henders2026strategic,
author = {Henders, Anjali K and Ziser, Laura and Garton, Fleur C and Adams, Lorel and Ernst, Karalyn and Furlong, Sarah and Heads, Judith Anne and Heggie, Susan and Krasniqi, Ruth and Bhadravathi Lokeshappa, Madhura and Mazumder, Srestha and McNamara, Elyshia and MacShane, Amanda and Mekhael, Linda and Nunn, Lorelle and Orden, Bronwen and Ryder, Julie and Thorpe, Kathryn and Toubia, Marie and Wallace, Leanne M and Wickremeratne, Dina and Windebank, Emma and Benyamin, Beben and Ngo, Shyuan and Nicholson, Garth and Pamphlett, Roger and Steyn, Frederik J and Visscher, Peter M and Willams, Kelly L and Henderson, Robert and Kiernan, Matthew C and Laing, Nigel and Mathers, Susan and McCombe, Pamela A and Needham, Merrilee and Rowe, Dominic and Schultz, David and Talman, Paul and Vucic, Steve and Blair, Ian P and McRae, Allan F and Wray, Naomi R},
title = {{Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile}},
journal = {BMJ open},
year = {2026},
month = jun,
volume = {16},
number = {6},
pages = {e110906},
publisher = {BMJ Publishing Group},
issn = {2044-6055},
doi = {10.1136/bmjopen-2025-110906},
url = {https://doi.org/10.1136/bmjopen-2025-110906},
pmid = {42315356},
pmcid = {PMC13288974}
}

RIS

TY - JOUR
AU - Henders, Anjali K
AU - Ziser, Laura
AU - Garton, Fleur C
AU - Adams, Lorel
AU - Ernst, Karalyn
AU - Furlong, Sarah
AU - Heads, Judith Anne
AU - Heggie, Susan
AU - Krasniqi, Ruth
AU - Bhadravathi Lokeshappa, Madhura
AU - Mazumder, Srestha
AU - McNamara, Elyshia
AU - MacShane, Amanda
AU - Mekhael, Linda
AU - Nunn, Lorelle
AU - Orden, Bronwen
AU - Ryder, Julie
AU - Thorpe, Kathryn
AU - Toubia, Marie
AU - Wallace, Leanne M
AU - Wickremeratne, Dina
AU - Windebank, Emma
AU - Benyamin, Beben
AU - Ngo, Shyuan
AU - Nicholson, Garth
AU - Pamphlett, Roger
AU - Steyn, Frederik J
AU - Visscher, Peter M
AU - Willams, Kelly L
AU - Henderson, Robert
AU - Kiernan, Matthew C
AU - Laing, Nigel
AU - Mathers, Susan
AU - McCombe, Pamela A
AU - Needham, Merrilee
AU - Rowe, Dominic
AU - Schultz, David
AU - Talman, Paul
AU - Vucic, Steve
AU - Blair, Ian P
AU - McRae, Allan F
AU - Wray, Naomi R
TI - Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile
T2 - BMJ open
J2 - BMJ Open
PY - 2026
DA - 2026/06/18
VL - 16
IS - 6
SP - e110906
SN - 2044-6055
PB - BMJ Publishing Group
DO - 10.1136/bmjopen-2025-110906
UR - https://doi.org/10.1136/bmjopen-2025-110906
LA - en
ER -

CSL-JSON

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"language": "en",
"issued": {
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}
}

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