PAH-ICON: International Consortium for Genetic Studies in PAH

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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. 

Publications and achievements: 


Micheala Aldred , Indiana University
Stefan Graf, University of Cambridge