Month: February 2019

The inaugural PAHICON meeting took place on the 4/5 February 2019 at the Crowne Plaza, Barcelona

Thank you to everyone who attended our 1st meeting

Meeting Program

1st Symposium for the International Consortium for Genetic Studies in PAH, Barcelona 4/5 February 2019

Over 140 delegates attended the inaugural PAH-ICON symposium in Barcelona. The meeting consisted of two days of presentations by invited speakers in the field of genetic s and genomics of PAH. In addition, the meeting included oral and poster abstract presentations by investigators from around the world. The audience learned about recent advances in PAH genetics including the first announcement of three new genes underlying PAH. On the afternoon of the second day the Consortium discussed aims and objectives for the coming year that would be best tackled by international collaboration and networking in this rapidly evolving field. Several task forces were established whereby international collaborators will work together around priority areas. It was agreed that the group will meet annually to share results and to enable further networking.

Topics presented included

Genetics of PAH across the lifespan

Common variant analysis in PAH

RNA-sequencing of peripheral blood in PAH

Examples of Task Forces

Genetics of paediatric PAH

ClinGen PAH working group to curate causal PAH mutations

Functional genomics task force

Establish international registry of PVOD cases with EIF2AK4 mutations

Follow up of healthy BMPR2 mutation carriers

Sequencing of BMPR2 negative PAH families

Twin studies in PAH