Joanna Pepke‐Żaba

This study shows that impaired BCAA metabolism promotes ferroptosis, leading to pulmonary arterial hypertension and associated liver disease, and that targeting BCAA metabolism can alleviate these effects.

This study identifies two new PAH risk genes, FBLN2 and PDGFD, through rare variant analysis of 4,241 PAH cases, with de novo variants contributing to ~15% of pediatric IPAH.

This study identifies common genetic variants associated with pulmonary arterial hypertension risk and survival, focusing on HLA-DPA1/DPB1 and a SOX17 enhancer locus.

This study identifies novel rare genetic variants associated with heritable pulmonary arterial hypertension through whole genome sequencing of cases and controls.