Novel strategies to cure imprinting disorders

Abstract

In imprinting disorders, where the active copy of an imprinted gene is mutated or lost, there is a unique opportunity for causal treatment by unsilencing the other, dormant allele. Depending on the mechanism by which the allele is silenced, unsilencing can be achieved by epigenetic drugs, antisense-oligonucleotides (ASOs) or epigenome editing. While most of the research is still preclinical, first-in-humans studies with ASOs have started in 2020.