Calum Harvey

TL;DR: In this article, the role of physical exercise in the development of ALS was dissected in a series of two-sample Mendelian randomisation (MR) experiments and evidence supporting a causal relationship between genetic liability to frequent and strenuous leisure-time exercise and ALS using a liberal instrument was presented.

TL;DR: It is proposed that G4C2-repeat expansion of C9ORF72 predisposes to exercise-induced ALS and is likely to cause motor neuron injury only in patients with a risk-genotype.

TL;DR: Detailed transcriptomic and epigenetic profiling of iPSC-derived motor neurons enabled RefMap to identify 690 genes associated with ALS, the majority of which are novel, and the genetic results support initiation of ALS neurotoxicity in the distal axon.

TL;DR: In this paper, the authors summarize recent developments and discuss the future of machine learning models to address nonlinear genetic interactions and the potential reward for successful disease subclassification is large-scale and effective personalized medicine.

TL;DR: It is proposed that amyotrophic lateral sclerosis patients and family members with high serum isoleucine levels should be offered supplementation with vitamin B12, and evidence is presented that estradiol is neuroprotective.