PAH-ICON: International Consortium for Genetic Studies in PAH

PAH-ICON – the International Consortium for the Genetics of Pulmonary Arterial Hypertension (PAH-ICON) is a global consortium uniting basic and clinical science experts to advance PH research through genetics and genomics. By building larger, more diverse international multidimensional datasets, the group enables collaborative studies designed to address critical unmet needs in patient care.

Aims & Goals:

 The goals of PAH-ICON are to:

1. work towards a molecular classification of PAH
2. provide a platform for whole genome/exome sequencing and analysis at centres with the capability/facilities/resources to undertake this
3. share genetic data and analysis approaches
4. publish definitive high-impact publications of these studies as a Consortium
5. share best practices in ethics and feedback on pertinent genetic findings to patients and relatives

There are active working groups focusing on topics including:

• Clinical genetics - ClinGen PH Gene and Variant Curation Expert Panel
• International patient advocacy and research initiatives, like TBX4life 
• Standardisation and harmonisation of phenotypes and endotypes
• Exploring and pioneering sample and data sharing strategies across boundaries
• Twin studies

The Task Force meets monthly by Zoom, alternating between scientific presentations and business meetings. If you’re interested in joining this Task Force, please get in touch.

Find out more about PAH-ICON

Events

• 6th Symposium of the International Consortium for Genetic Studies in P(A)H 

  The group held it's 6th symposium at PVRI 2026 Dublin, featuring 3 keynote presentations alongside discussion, brainstorming and networking.

            Watch the recordings here

Publications and achievements: 

• Welch, C. L., Aldred, M. A., Balachandar, S., Dooijes, D., Eichstaedt, C. A., et al. (2023). 'Defining the clinical validity of genes reported to cause pulmonary arterial hypertension'. Genetics in Medicine, 25(11), 100925.
• Eichstaedt, C. A., Belge, C., Chung, W. K., Gräf, S., Grünig, E., et al. (2023). 'Genetic counselling and testing in pulmonary arterial hypertension: a consensus Statement on behalf of the International Consortium for Genetic Studies in PAH'. European Respiratory Journal, 61(2), 2201471.
• TBX4 life, Eric Austin, Matina Prapa
• ClinGen, a National Institutes of Health (NIH) funded resource dedicated to building a central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.