Dani Baird and her family members carry a mutated Cu,Zn-superoxide dismutase-1 (SOD1) gene, one of thirteen genes suspected of causing motor neuron diseases (MNDs). According to the National Library of Medicine’s Genetics Home Reference, “at least 200 mutations in the SOD1 gene have been found to cause amyotrophic lateral sclerosis (ALS). Professor Christopher Shaw explains how antisense oligonucleotides (ASOs) are used to target and bind with the mRNA that is transcribed from the mutated gene, triggering the release of RNase which prevents the faulty mRNA from creating the toxic proteins responsible for the disease.

Research into all thirteen suspected genes is ongoing. Considering the developments in ASO research and gene-editing technologies over the past decade, scientists and patients are hopeful that treating these diseases at the cellular and genetic levels may offer positive outcomes for current patients with MNDs, and possibly provide physicians with the ability to repair the mutation permanently in the future.