PAH-ICON: International Consortium for Genetic Studies in PAH

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:

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

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.

Publications and achievements: 

• Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH, Christina A Eichstaedt, Catharina Belge, Wendy K Chung, Stefan Gräf, Ekkehard Grünig, David Montani, Rozenn Quarck, Jair A Tenorio-Castano, Florent Soubrier, Richard C Trembath, Nicholas W Morrell, European Respiratory Society, Feb 2023 (ersjournals.com) 
• Defining the clinical validity of genes reported to cause pulmonary arterial hypertension, Carrie L Welch, Micheala A Aldred, Srimmitha Balachandar, Dennis Dooijes, Christina A Eichstaedt, Stefan Gräf, Arjan C Houweling, Rajiv D Machado, Divya Pandya, Matina Prapa, Memoona Shaukat, Laura Southgate, Jair Tenorio-Castano,Wendy K Chung, Genet Med, Nov 2023
• 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.