PAH-ICON Genomics Webinar Series

21 October 2021

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  • Hours
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Academic Industry & roundtable

The PVRI are delighted to announce that our friends at PAH-ICON Genomics are hosting a series of webinars throughout 2021 on various interesting topics of the highest quality scientific content. The series will run monthly from March 2021 to November 2021, excluding June and August, and will intertwine with the PVRI 2021 digital series which is already taking place. 

Scientific organisers

  • Harm Jan Bogaard, Amsterdam University Centre, the Netherlands
  • Micheala Aldred, Indiana University, USA
  • Stefan Gräf, University of Cambridge, UK
  • Wendy Chung, Columbia University, USA
  • Martin Wilkins, Imperial College, London, UK
  • Eric Austin, Vanderbilt University, USA
  • David Montani, Hopitaux Universitaires, Paris-sud, France
  • Greg Elliott, University of Utah, USA
  • Ankit Desai, Indiana University, USA
  • Paul Hassoun, John Hopkins University School of Medicine, USA

Scientific programme

Webinar 1 // 15 March 2021

Healthy carriers of BMPR2 mutations - screening and new insights


  • Results from the DELPHI-II study
  • Lessons learnt from the analysis of the UK National Cohort 
  • Genetic screening and clinical follow-up of HPAH families - the Heidelberg experience 
  • Hereditary PAH in Leuven 
  • Discussing heredity and cascade testing: guidance for a PAH physician 


Webinar 2 // 12 April 2021

Mitochondrial genes and PAH


  • Next-generation Diagnostics of Mitochondrial Diseases: What can be learned for PAH?
  • Mitochondrial haplogroup analysis in PAH
  • Mitochondrial mitophagy in hypoxia-induced pulmonary hypertension
  • NFU1 gene mutation and metabolic reprogramming in PAH


Webinar 3 // 10 May 2021

ClinGen: Defining the genes and variants that cause PAH

  • PH Gene Curation Expert Panel and PAH gene curation overview
  • Detailed curation: KDR
  • Curation summary: BMPR2
  • Curation summary: TBX4
  • Curation summary: KCNK3
  • Curation summary: SMAD9
  • Curation summary: GDF2
  • Curation summary: ATP13A3
  • Curation summary: AQP1
  • ClinGen PH GCEP Future directions


Webinar 4 // 12 July 2021

Metabolomics and proteomics in PAH

  • Generation of a protein panel for risk prediction from 4,100 plasma proteins
  • Mining the plasma proteome to inform pathobiology of PAH
  • Comparison of Somascan and Olink measurements of the plasma proteome to understand disease 
  • Insights from PVDOMICs 
  • The metabolome in PAH
  • Immunophenotyping 


Webinar 5 // 13 September 2021

TBX4, developmental lung disease, and pulmonary hypertension

  • TBX4 and the Genetics of Pulmonary Hypertension in Children and Adults
  • Histopathology of TBX4 Gene Mutations
  • Unravelling the pathogenic mechanisms of developmental lung diseases
  • Phenotype and Outcome of Individuals with Pathogenic TBX4 Mutations
  • TBX4Life: Developing an International Family-Driven Initiative and Research Focus on TBX4


Webinar 6 // 21 October 2021

Pulmonary Veno-Occlusive Disease: Genetics and clinical phenotypes

  • Introduction of moderators: How we came to know pvOD/pcH
  • Epidemiology of pvOD/pcH
  • PVOD/pcH phenotypes
  • Pathologic assessment
  • Experimental models
  • Molecular pathology


Webinar 7 // 15 November 2021

The genetics of scleroderma-associated PAH and vasoresponders

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