Action Medical Research have funded Professor Abbott for two years to support pre-clinical testing of a therapy for a rare neurodevelopmental disorder. Image A researcher at work in the Abbott Research Group Action Medical Research has been active for over 70 years and funds research that targets childhood diseases. This award will last for 2 years and will allow the Abbott Research Group to pre-clinically test allele-specific antisense oligonucleotide (ASO) therapy for a rare neurodevelopmental disorder caused by mutations in a gene called EEF1A2.Epilepsy that starts in the first year of life is usually very severe and associated with delays in development. Many early onset epilepsies are caused by changes (mutations) in genes that arise for the first time in affected children; one such gene is EEF1A2. Cathy's group has been working on EEF1A2 for many years, and they are interested in understanding the underlying mechanisms by which the mutations give rise to epileptic encephalopathy, as well as exploring ways of treating the disorder.Children with mutations in EEF1A2 can have multiple seizures every day, and many never learn to talk, have movement disorders, and sleep badly. Effective treatments are badly needed as the only form of therapy currently on offer is medication to control seizures, which often fails and does not treat the underlying genetic condition.ASO therapy allows the selective degradation of gene products (pre-mRNA) with disease-causing mutations by targeting them with single stranded DNA molecules. Wild type copies of a gene, which do not carry deleterious mutations, are unaffected. This is particularly useful for targeting conditions caused by dominant gain-of-function mutations, where a single copy of the mutated form of the gene causes the condition. ASO therapy is showing great promise in the treatment of disorders like spinal muscular atrophy, and a version of this therapy that specifically targets the mutant copy of the gene has been shown to restore normal cognition in mice that model Huntington’s disease and another severe, early onset form of epilepsy. We are very grateful to Action Medical Research for funding this project and are excited to start the work.Professor Cathy AbbottLinksAction Medical Research (external)Cathy Abbott Research GroupCathy Abbott Twitter page (external) Tags 2023 Publication date 03 Apr, 2023
