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 »

How family dynamics are affected in the case of a genetic pulmonary arterial hypertension diagnosis: interview and focus group highlights, European Respiratory Journal Open research, March 24, 2025

A study titled “Navigating family dynamics and ethical considerations in genetic diagnosis of pulmonary arterial hypertension: insights from in-depth semi-structured interviews”, published on the ERJ Open research on March 24, 2025, examines the impact of genetic diagnosis on families affected by pulmonary arterial hypertension (PAH). Researchers interviewed 63 stakeholders across 53 interviews and focus groups

How family dynamics are affected in the case of a genetic pulmonary arterial hypertension diagnosis: interview and focus group highlights, European Respiratory Journal Open research, March 24, 2025 Read Post »

Mutations in the TBX4 gene are associated with the development of pulmonary arterial hypertension in children. Anton Morkin, the father of a young patient, has created a TBX4 global community

Mutations in the TBX4 gene can cause not only heritable pulmonary arterial hypertension (HPAH) in children but also skeletal anomalies causing issues with the knee and hip joints. TBX4 mutations can cause another serious illness, Interstitial Lung Disease in Childhood (chILD), which is also incurable. Anton Morkin is the father of a young boy who

Mutations in the TBX4 gene are associated with the development of pulmonary arterial hypertension in children. Anton Morkin, the father of a young patient, has created a TBX4 global community 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 »

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