Genetics Meets Environment: New Insights into Heritable Pulmonary Arterial Hypertension (HPAH), Nature Scientific Reports, January 29, 2026

The most common genetic cause of heritable pulmonary arterial hypertension is a pathogenic variant in the BMPR2 gene, which encodes a receptor in the TGF-β signaling pathway. While 18 pulmonary arterial hypertension genes have been identified and can be tested simultaneously through gene panel sequencing, approximately 17% of heritable pulmonary arterial hypertension patients show no […]

Genetics Meets Environment: New Insights into Heritable Pulmonary Arterial Hypertension (HPAH), Nature Scientific Reports, January 29, 2026 Read Post »

Breast cancer and pulmonary arterial hypertension: an unexpected connection: both diseases share a vulnerability in the BMPR2 gene, Circulation, January 28, 2026

Women are disproportionately affected by both pulmonary arterial hypertension (PAH) and breast cancer. BMPR2 (bone morphogenetic protein receptor type 2) mutations are the leading genetic cause of familial pulmonary arterial hypertension. The findings of a study published in Circulation indicate that breast cancer and pulmonary arterial hypertension share a common genetic link involving the BMPR2

Breast cancer and pulmonary arterial hypertension: an unexpected connection: both diseases share a vulnerability in the BMPR2 gene, Circulation, January 28, 2026 Read Post »

Genetic counselling and testing in pulmonary arterial hypertension (PAH): a consensus statement on behalf of the International Consortium for Genetic Studies in PAH, European Respiratory Journal

Aside from the commonly observed BMPR2 gene (bone morphogenetic protein receptor 2), there are several other genes, each falling into distinct functional categories, that have been identified as contributors to pulmonary arterial hypertension development. This has led both specialized and general healthcare providers to encounter various inquiries about the necessity, methods, and potential outcomes of

Genetic counselling and testing in pulmonary arterial hypertension (PAH): a consensus statement on behalf of the International Consortium for Genetic Studies in PAH, European Respiratory Journal Read Post »

TRANSLATE »
Scroll to Top