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- PAH-Icon Symposia
PAH-Icon Symposia
Annual PAH-Icon meetings are usually held as a pre-conference session at the annual PVRI congress. The meetings bring together researchers and clinicians worldwide to share their latest findings on ??????.
Held during.....
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
Held during....
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 & analy
Held during....
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
Want to get involved?
If you’re a basic or clinician scientist interested in P(A)H genetics, we would love to hear from you.