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Short structural variants as informative genetic markers for ALS disease risk and progression

Theunissen, F., Flynn, L.L., Anderton, R.S. and Akkari, P.A. (2022) Short structural variants as informative genetic markers for ALS disease risk and progression. BMC Medicine, 20 (1). Art. 11.

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Abstract

There is considerable variability in disease progression for patients with amyotrophic lateral sclerosis (ALS) including the age of disease onset, site of disease onset, and survival time. There is growing evidence that short structural variations (SSVs) residing in frequently overlooked genomic regions can contribute to complex disease mechanisms and can explain, in part, the phenotypic variability in ALS patients. Here, we discuss SSVs recently characterized by our laboratory and how these discoveries integrate into the current literature on ALS, particularly in the context of application to future clinical trials. These markers may help to identify and differentiate patients for clinical trials that have a similar ALS disease mechanism(s), thereby reducing the impact of participant heterogeneity. As evidence accumulates for the genetic markers discovered in SQSTM1, SCAF4, and STMN2, we hope to improve the outcomes of future ALS clinical trials.

Item Type: Journal Article
Murdoch Affiliation(s): Centre for Molecular Medicine and Innovative Therapeutics (CMMIT)
Publisher: BioMed Central
Copyright: © 2022 Theunissen et al.
URI: http://researchrepository.murdoch.edu.au/id/eprint/63683
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