Column: EVMS research aims to save the lives of women and babies dailypress.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from dailypress.com Daily Mail and Mail on Sunday newspapers.
Animal testing at EVMS is an essential to research seeking to save the lives of women and babes, EVMS School of Medicine President Alfred Abuhamad, M.D., writes in a guest column.
Timothy syndrome (TS) is a severe, multisystem disorder characterized by autism, epilepsy, long-QT syndrome and other neuropsychiatric conditions1. TS type 1 (TS1) is caused by a gain-of-function variant in the alternatively spliced and developmentally enriched CACNA1C exon 8A, as opposed to its counterpart exon 8. We previously uncovered several phenotypes in neurons derived from patients with TS1, including delayed channel inactivation, prolonged depolarization-induced calcium rise, impaired interneuron migration, activity-dependent dendrite retraction and an unanticipated persistent expression of exon 8A2–6. We reasoned that switching CACNA1C exon utilization from 8A to 8 would represent a potential therapeutic strategy. Here we developed antisense oligonucleotides (ASOs) to effectively decrease the inclusion of exon 8A in human cells both in vitro and, following transplantation, in vivo. We discovered that the ASO-mediated switch from exon