Symposia

Annual PAH-ICON Symposia

PAH-ICON meetings are held each year as part of the PVRI Congress. They bring together researchers and clinicians from around the world to share the latest advances in PH genetics, genomics, and precision medicine — and to drive new international collaborations.

The 2026 symposium focused on genetic discovery, molecular mechanisms, and their clinical impact in PAH.

Programme highlights

Session 1

Keynote I: 25 years BMPR2: past, present & future of PAH genetics - Richard Trembath
Genomic determinants of therapy response in pulmonary veno-occlusive disease: insights from whole-genome sequencing & GWAS - Natalia Gallego-Zazo
Detection of CNVs through whole genome sequencing in patients with PAH - Monica Mora

Session 2

Keynote II: The role of mutations in epigenetic regulator genes in inflammation & PAH - Stephen Archer
Transcriptomic signatures of pulmonary vascular remodeling in COPDGene - Vasile Foris
DNA methylation signature in PAH, a potential molecular diagnostic tool - Jair Tenorio

Session 3

Focused on expanding global cohorts and understanding genetic variation across populations.

Programme highlights

Keynote: Rare disease landscape in Brazil and Latin America - Roberto Giugliani
Update from ClinGen PAH gene and variant expert panel - Carrie Welch
Update from the TBX4Life initiative - Eric Austin
Late onset pulmonary veno-occlusive disease associated with rare heterozygous variants of KDR and EIF2AK4 - Vasile Foris
Functional characterization of novel KV1.5 variants in PAH - Andrea Olschewski
Spatial profiling identifies localised changes in gene expression in pulmonary vascular remodeling in the sugen hypoxia rat model - James Klinger
Pathogenic PAH gene variants linked to pulmonary vascular pruning in non-hispanic white COPD gene participants - Vasile Foris
Smaller right ventricular volumes correlate with elevated afterload in unaffected carriers of a pathogenic BMPR2 variant - Eszter Tóth
Building future PH cohorts
- Examples and experiences from around the globe
- PVRI GoDeep’s future perspective
- Core data set: Standardisation & harmonisation of phenotypes
- Leveraging image data
- Resources, federation & analysis

Explored how genetic and multi-omics data can inform clinical practice.

Programme highlights

Integration of genetics & omics data into risk calculators - Anna Hemnes
Deciphering the genetic basis of Systemic Sclerosis - Javier Martin
Genetics of the right ventricle - Khodr Tello
Panel discussion: Opportunities for artificial intelligence in PV research - Dennis Wang, Andrew Sweatt, Khodr Tello
Seven additional patients with SOX17-related PAH & review of the literature - Natalia Gallego-Zazo
BMPR2 mutation and prognosis in PAH: a monocentric experience - Fabio Sirchia
A rare case of PAH associated with a TBX4 mutation in a patient treated with dasatinib - Fabio Sirchia
Pulmonary vascular phenotype in patients with GDF2 (BMP9) or BMP10 variants: a multicentre study - Julien Grynblat
SMAD6 as a possible cause of a congenital heart disease associated PAH - Christina Eichstaedt
Phenotypic characterisation of SOX17-related PAH in children - Cara Morgan
Hereditary PAH – Genetics and environmental exposure untangled - Christina Eichstaedt

Focused on genetic mechanisms and disease classification.

Programme highlights

Update from Clingen Task force on PAH genes - Wendy Chung
Genetic counselling and testing in pulmonary arterial hypertension: A consensus statement on behalf
of the international Consortium for genetic Studies in Pulmonary Arterial Hypertension - Christina Eichstaedt
International collaborative studies of unaffected bMPr2 mutation carriers - Harm-Jan Bogaard & David Montani
Mitochondrial genetics: Haplogroups and beyond - Micheala Aldred
Could anorexigen exposure contribute to the increased penetrance of pulmonary arterial hypertension in women who carry pathogenic bMPr2 mutations? - Raymond Benza
Rumbling disease-causing non-coding variation in pulmonary hypertension - Stefan Graf
Molecular classification/clustering based on the transcriptome and epigenome in PAH - Allan Lawrie
A first multicentre, adaptive recall-by-genotype study in pulmonary arterial hypertension
(PAH AnALyST): Study protocol - Emilia Swietlik
DNA methylation and pulmonary hypertension - Chris Rhodes

Marked a major step forward in large-scale genomic collaboration.

Programme highlights

Proteome/Metabolomics Task Force - Martin Wilkins
Whole exome sequencing analysis of idiopathic and heritable pulmonary arterial hypertension - Jair Tenorio
Genetic findings in patients with different forms of pulmonary hypertension - Christina Eichstaedt
Clinical Phenotypes Task Force - Harm Jan Bogaard
Heritable veno-occlusive pulmonary disease - Jair Tenorio
The combination of metabolomic and miRNA diagnostic scores to identify pulmonary hypertension and sub-classify pulmonary
arterial hypertension - Chris Rhodes
Mitochondrial Genetics Task Force - Micheala Aldred
RNA sequencing Task Force - Chris Rhodes
Rare and de novo variants identified in 4,043 PAH cases from an international consortium implicate new PAH candidate genes - Wendy Chung & Yufeng Shen
The role of sorting nexin 29 (SNX29): a novel biomarker for vasoresponsive pulmonary arterial hypertension (PAH) - Jason Karnes
Epigenetics Task Force - Wendy Chung
Familial pulmonary arterial hypertension by KDR heterozygous loss of function - Florent Soubrier
TBX4 Task Force - Eric Austin
Rare variant association study of multiple pulmonary hypertension phenotypes using a Bayesian statistics framework - Emilia Swietlik
EIFAK4 Task Force - Jair Tenorio
Healthy Mutation Carriers Task Force - Harm Jan Bogaard
ClinGen Task Force - Wendy Chung
Mitochondrial haplogroup analysis in PAH - Micheala Aldred
Vasoresponders Task Force - Ankit Desai
Scleroderma Task Force - Ankit Desai

The first PAH-ICON scientific meeting brought together global experts in PAH genetics. It laid the foundation for future collaboration, data sharing, and international research in this rapidly evolving field.