Katherine A. Waugh

The paper benchmarks proteomic biomarkers and drug targets in patient-derived cerebral organoids against clinical cohorts, finding they detect most candidates and replicate disease changes in a quarter of reproducible markers.

The paper reports altered hepatic metabolism in Down syndrome using multi-omic analysis of plasma and mouse models, showing increased bile acids and liver dysfunction that can be modulated by diet.

This study investigates immune dysregulation in Down syndrome and shows that JAK inhibition with tofacitinib reduces autoimmune symptoms and inflammatory markers without significant adverse effects.

The paper shows that correcting interferon receptor gene dosage in a mouse model of trisomy 21 rescues multiple key phenotypes associated with Down syndrome.