Nicola Whiffin

Modulating splicing in 5ʹ untranslated regions to treat rare haploinsufficient disease

Abstract Background Rare genetic disorders collectively impact over 300 million people worldwide, yet around 95% have no specific treatments. For the many rare disorders caused by haploinsufficiency, effective therapies need to upregulate protein expression. However, therapeutic...

Accurately modeling RNase H-mediated antisense oligonucleotide efficacy.

, achieving a 5.72-fold reduction in screening effort compared to random selection. ASO Atlas provides the first systematic resource to rigorously evaluate hypotheses regarding key parameters in ASO design, including sequence composition, chemical modifications, and target region...