Reviving silent genes to treat Prader-Willi syndrome Researchers tested a new antisense oligonucleotide therapy that turns the maternal healthy genes back on to target the underlying cause of disease. Written byAllison Whitten, PhD

Reviving silent genes to treat Prader-Willi syndrome Researchers tested a new antisense oligonucleotide therapy that turns the maternal healthy genes back on to target the underlying cause of disease. Written byAllison Whitten, PhD https://www.drugdiscoverynews.com/reviving-silent-genes-to-treat-prader-willi-syndrome-17615 In Prader-Willi syndrome — a rare genetic disease that leads to physical and metabolic changes and developmental delays — a group of genes on chromosome 15 inherited from the father are not expressed. The child still inherits the healthy versions from the mother, but they remain silent. New research from Marnie Blewitt’s lab at the Walter and Eliza Hall Institute of Medical Research is investigating what happens if the maternal genes are switched back on. In a recent paper published in Science Advances, her team showed that using antisense oligonucleotides in mice and patient-derived neural cells to target the SMCHD1 protein, which is required to keep the maternal genes silenced, successfully restored the silenced gene activity. In mouse models of the condition, this led to improvements in social interaction, physical strength, and reduced weight.