We are excited to announce the scientific programme comprising three keynotes and five abstract presentations while providing plenty of room for discussion, brainstorming and networking.
Category: Symposia
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2nd PAHICON Meeting Lima Peru
The meeting at the Swissotel, Lima was held on the 2/3 February 2020
Over 50 delegates attended the 2nd PAH-ICON symposium in Lima. The meeting consisted of one and a half days of presentations by PAH taskforce representatives and oral. abstracts. Several Taskforces have been set up to focus on specific areas, and the focus of this meeting was to establish aims and objectives and research planning for 2020. Abstracts were presented from around the world and detailed exciting examples of ongoing research of PAH genetics and genomics.
Discussions facilitated by the meeting included the following:
- To increase the awareness and knowledge of participation in PAH genetic research
- To write international guidelines for genetic testing in PAH under the PAHICON consortium banner
- To identify core phenotype data to be collected by all centres
- Refine the Taskforces and their contributors
- Working groups to be defined for specific shorter term projects
The consortium has now been running since 2016 with the first face to face meeting in May 2017. Bi- monthly teleconferences allow for the continued international research collaboration and planning. It was agreed that the group would meet again at the next PVRI meeting in Athens 2021. It is imperative that only by collating our knowledge and resources that we can tackle the ongoing challenges in PAH such as understanding the contribution of common genetic variation to the clinical course of disease. The PAHICON consortium biorepository will soon be able to receive international samples for sequencing and analysis and further progress will be made on the clinical phenotype database.
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1st PAH ICON Meeting
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
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