VASCERN Registries project update

The VASCERN Registries Project officially launched on May 1st, 2020 and since then much work has been done by our Registry Working Group, the Registry Technical Teams Working Group and all of our members. As a reminder, our registry project can be viewed as either a unique registry, with the…

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Recording of VASCERN Webinar: On collagen, the Ehlers-Danlos Syndromes and vascular fragility: what’s in a name? now available!

The VASCERN webinar on the topic of “On collagen, the Ehlers-Danlos Syndromes and vascular fragility: what’s in a name?“ took place on June 30th, 2021. This informative webinar was presented by Professor Fransiska Malfait, Medium-Sized Arteries Working Group (MSA WG) Co-Chair, from Ghent University Hospital in Belgium. It started with…

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Focus on World HHT Day!

June was Hereditary Haemorrhagic Telangiectasia (HHT) Awareness month and June 23rd was World HHT Day! This international event was a day to raise awareness for this rare inherited disorder of the blood vessels that is covered by VASCERN’s HHT WG. The HHT patient advocates and patient organisations of the European…

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Research News: Identification of new disease gene that plays key role in development of the aortic aneurysms

A new publication entitled A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 has just been published in The American Journal of Human Genetics (AJHG) and is co-authored by two members of our Heritable Thoracic Aortic Diseases Working Group (HTAD WG), Professor Bart Loeys and Dr.…

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VASCERN Spotlights: Françoise Steinbach

This month we feature Françoise Steinbach, the European Patient Advocacy Group (ePAG) Deputy Co-Chair for the Heritable Thoracic Aortic Working Group (HTAD WG), from France. Françoise tells us how she became involved with VASCERN, what people should know about the reality of living with Marfan syndrome and how she hopes…

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