SALSA-SGC
Enabling all Australians with MND to contribute to a big-data research resource that integrates clinical, lifestyle and biological information.
1428
CASES
4712
CLINICAL VISITS
3469
SAMPLES
1284
GENOTYPED
RESEARCH HIGHLIGHTS
FEATURED RESEARCH PROJECT
UNC13A screening to support the Australian branch of the international MND MAGNET trial
MAGNET (Multi-arm, Adaptive, Group-sequential trial NETwork) is an international platform trial innovated to streamline the evaluation of potential motor neuron disease (MND) treatments. The idea of a platform trial is that multiple treatments can be tested simultaneously, and more people are randomized into treatment arms rather than placebo. MAGNET’s first sub-study evaluates the efficacy of lithium carbonate in MND patients who have a specific mutation in the UNC13A gene. The Human Studies Unit is supporting the launch of the Australian arm of MAGNET through conducting UNC13A mutation screening of potential candidates. Screening began in early April 2023, with n=24 individuals screened to date.
LATEST PUBLICATIONS
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1
Restuadi, R., Steyn, F.J., Kabashi, E. et al. Genome Med 14, 7 (2022). https://doi.org/10.1186/s13073-021-01006-6
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen, W., van der Spek, R.A.A., Bakker, M.K. et al. Nat Genet 53, 1636–1648 (2021). https://doi.org/10.1038/s41588-021-00973-1
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia.
Restuadi, R., Garton, F.C., Benyamin, B. et al. Eur J Hum Genet 30, 532–539 (2022). https://doi.org/10.1038/s41431-021-00885-y
Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders
Nabais, M.F., Laws, S.M., Lin, T. et al. Genome Biol 22, 90 (2021). https://doi.org/10.1186/s13059-021-02275-5
Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus is Associated with ALS and Links Weight Loss to the Disease Genetics.
Iacoangeli, A., Lin, T., Al Khleifat, A., et al. (2020). Cell reports, 33(4), 108323. https://doi.org/10.1016/j.celrep.2020.108323
Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis
Nabais, M.F., Lin, T., Benyamin, B. et al. npj Genom. Med. 5, 10 (2020). https://doi.org/10.1038/s41525-020-0118-3
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