The International Consortium for the Genetics of Pulmonary Arterial Hypertension (PAH-ICON) consists of a network of centres bringing together research expertise and/or patient populations for collaborative genomic studies of PH. There are contributing centres in the UK, USA, Italy, Austria, Germany, Canada, Belgium, France, the Netherlands and Spain. The goals of PAH-ICON are to:
work towards a molecular classification of PAH
provide a platform for whole genome/exome sequencing and analysis at centres with the capability/facilities/resources to undertake this
share genetic data and analysis approaches
publish definitive high-impact publications of these studies as a Consortium
share best practices in ethics and feedback on pertinent genetic findings to patients and relatives
Their activities are organised into a number of working groups:
Scleroderma genetics
Clinical phenotypes
ClinGen PH Gene and Variant Curation Expert Panel
TBX4Life, EIF2AK4 mutation carriers
Healthy mutation carriers
Twin Studies
Vasoresponders
Multi-omics and artificial intelligence (merged from RNA-seq, Epigenetics, Metabolomics and Proteomics)
Mitochondrial genetics
Pharmacogenomics (to be established)
The Task Force meets monthly by Zoom, alternating between scientific presentations and business meetings. They have active working groups focusing on topics such as clinical phenotyping, scleroderma-associated PAH, variant curation and TBX4 syndrome. If you’re interested in joining this Task Force, please get in touch.
PAH-ICON are holding a satellite meeting at the PVRI 2026 Dublin Congress, on Sunday 1 February.
This meeting is free and open to all congress delegates to attend (even if you are not a member of the group). Details can be found on the Congress webpage.
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.
Interested in accessing global data on PH patient experience? Almost 4,000 patients and carers across 85 countries completed Phase 1 of our PH Global Patient Survey (PHGPS). Questions across all PH groups included diagnostic tests & timelines, genetic testing, treatments, financial burdens, hospital visits, research participation, quality of life, telemedicine, patient-reported outcome measures, and self-monitoring with digital technology. The findings have the potential to improve patient care, guide future research and help us address unmet needs.
