The poster was well received by a several attendees – showing the effect of two compounds that suppress or block hnRNPA1 from binding to a splice silencer site in exon 11 of the CHM gene. This variant was found in two brothers, one of whom does not appear to be affected by choroideremia in terms of his symptoms – suggesting that there is a critical level of REP1 (CHM gene product) expression required to maintain normal cellular function in the eye.
CHM Gene Therapy at University of Alberta 