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. …
The Heritable Thoracic Aortic Diseases Working Group (HTAD WG), Chaired by Professor Julie De Backer, held their online Spring meeting on May 27th, 2021. The dynamic group was comprised of 25 Healthcare professionals from 11 countries as well as three patient advocates (including the European Patient Advocacy Group (ePAG) Co-Chair, …
Originally planned to be a face-to-face meeting, the annual Spring Meeting of the Vascular Anomalies Working Group (VASCA-WG) took place online on May 19th and May 25th, 2021. Chaired by Prof. Miikka Vikkula (VASCA-WG Chair), this meeting was attended by 17 healthcare professionals from 10 EU countries. The patients were …
The Pediatric and Primary Lymphedema Working Group (PPL WG)’s Spring Meeting, traditionally held face to face, took place online on June 12th, 2021. Chaired by Dr. Robert Damstra, it was attended by 10 healthcare professionals from 6 countries as well as five patient advocates from the PPL ePAG. The afternoon …
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 …
The first live webinar from our Vascular Anomalies Working Group (VASCA-WG) was held on April 28th, 2021 and focused on the “Classification of vascular anomalies”. This webinar started with a brief presentation of the VASCA-WG by surprise guest, Prof. Miikka VIKKULA (Chair of the VASCA-WG), who equally announced the publication …
We are very pleased to announce the release of a brand new publication: the VASCA Magazine! Access it here This magazine was created on the initiative of the European Patient Advocacy Group (ePAG) members of the Vascular Anomalies Working Group (VASCA WG) in VASCERN and was supported financially by VASCERN …
The European Joint Programme on Rare Diseases (EJP RD) has launched its first free MOOC entitled “Diagnosing Rare Diseases: from the Clinic to Research and back“! Register here This MOOC is the result of hard work from several EJP RD partners, in particular ERN ITHACA (represented by Prof Laurence Faivre), ERN GENTURIS (represented …
We are very pleased to announce the publication of an article entitled “eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)” in the Orphanet Journal of Rare Diseases (OJRD). This publication, co-authored by Dr. Alessandro Pini (former VASCERN …
This month, we interview Dr. Hans-Jurgen Mager, a pulmonologist from the Netherlands working at St. Antonius Hospital and member of the Hereditary Haemorrhagic Telangiectasia Working Group (HHT WG). Dr. Mager tells us how his passion for HHT was born, the work he has achieved in advancing diagnostic and therapeutic research …