The Sporadic ALS Australia Systems Genomics Consortium: SALSA-SGC — The Association Specialists
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The Sporadic ALS Australia Systems Genomics Consortium: SALSA-SGC (22200)

Anjali K Henders 1 , Laura Ziser 1 , Fleur Garton 1 , Allan McRae 1 , Shyuan Ngo 1 , Matthew Kiernan 2 , Nigel Laing 3 , Susan Mathers 4 , Merrilee Needham 5 , Dominic Rowe 6 , David Schultz 7 , Steve Vucic 8 , Pamela McCombe 9 , Robert Henderson 10 , Ian P Blair 6 , Naomi R Wray 11 , SALSA-SG Consortium 12
  1. The University of Queensland, Brisbane, QLD, Australia
  2. Neuroscience Research Australia; and Institute of Neurological Sciences, UNSW and the South Eastern Sydney Local Health District, Sydney, NSW, Australia
  3. University of Western Australia, Harry Perkins Institute for Medical Research, Perth, WA, Australia
  4. Calvary Health Care Bethlehem, Parkdale, VIC, Australia
  5. Fiona Stanley Hospital, Perth, WA, Australia
  6. Macquarie University, Sydney, NSW, Australia
  7. Department of Neurology, Flinders Medical Centre, Adelaide, SA, Australia
  8. Brain & Mind Centre, University of Sydney, Institute of Clinical Neurosciences, Royal Prince Alfred Hospital, Sydney, NSW, Australia
  9. Centre for Clinical Research, The University of Queensland, Brisbane, QLD, Australia
  10. Neurology, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia
  11. Department of Psychiatry and Big Data Institute, University of Oxford, Oxford, UK
  12. Sporadic ALS Australia, Systems Genomics Consortium, Members in Australia/Netherlands/UK

The Sporadic ALS Australia – Systems Genomics Consortium (SALSA) was established in 2015 to provide dedicated infrastructure to support longitudinal collection of clinical data and biological samples from individuals with ALS in Australia. The aim to use collaborative system genomics approaches will accelerate understanding of risk factors and pathways underlying the aetiology of the disease. Additional data via linkage to the National MindAUS registry has also been established.

At census (March 2024) the cohort consisted of 1261 ALS cases and 140 controls recruited across seven clinical sites (5 states) in Australia between 2015 and 2023. Consistent with international registry data, within cases, 64.7% are male and 35.3% are female, with 1 in 10 reporting having a first degree relative with an ALS/FTD diagnosis. Approximately 55% have a primary diagnosis of Classic ALS with onset of symptoms most common in lumbar (35%) and cervical (31%) regions. Routine genetic screening has identified individuals carrying known pathogenic variants in C9orf72 (7.3%) and SOD1 (1.4%) and TARDBP43 (<1%).

Post pandemic we see recruitments rates increasing, and with new clinics to be added, we expect rapid growth. An online data explorer website has been made publicly available to enable data mine clinical and genetic phenotypes in real-time (http://salsasgc.org/explore/).

 The SALSA-SGC is providing centralised support to ALS/MND research in Australia. It includes support for genetic screening for clinical trials, and novel genomic research strategies being applied to the samples. We expect additional resources to be added to facilitate translational, precision-based therapy.