A new publication, co-authored by Prof Alessandro Pini (VASCERN eHealth and Training & Education Chair and HTAD-WG and MSA-WG member), entitled “Impaired Central Pulsatile Hemodynamics in Children and Adolescents With Marfan Syndrome” is now available. This study focuses on a cohort of children and adolescents with Marfan syndrome (MFS), a rare vascular …
The Marfan Foundation announces the “Marfan Syndrome and Related Disorders Empowerment Series”, a new series of webinars that will focus on topics that aim to improve the quality of life of people living with Marfan Syndrome and related disorders. Their first webinar will be on January 30th, 2018 at 3PM …
The European Commission has adopted the 2018 Annual Workplan for the 3rd EU Public Health Programme. EU Funding and calls linked to the European Reference Networks and Rare Diseases are the following: OrphaCodes, to support the implementation of OrphaCodes for rare diseases by Member States – EUR 750 000 (p. 16) Multiannual …
We are excited to report on a new large-scale research Program called Solve-RD! The Solve-RD research program is a project funded by the EU’s Horizon 2020 that will directly involve the European Reference Networks (ERNs) in order to diagnose currently undiagnosed rare disease patients using the latest in genetic technologies …
The 22nd ISSVA (International Society for the Study of Vascular Anomalies) International Workshop will be held in Amsterdam, Netherlands from May 29-June 1st, 2018. This biannual meeting will be co-chaired by Prof Leo Schultze Kool (co-chair of the VASCA WG and chair of the Patient Registry WG) and will be attended …
EURORDIS has published a position paper on patient access to rare disease therapies entitled “Breaking the Access Deadlock to Leave No One Behind”. Due to major scientific advances and a favourable legislative environment, there has been a dramatic increase in the number of rare disease therapies developed in the last …
Eurordis’ Rare Barometer Voices has a new survey entitled “Sharing my health information: why, how, and with whom?” that aims to collect the thoughts of patients (and/or their family members/carers) on the topics of data protection and data sharing. With the increased number of initiatives requesting access to patient data to support …
We are proud to report that a new publication by our HHT-WG Chair Prof Claire Shovlin, the British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations, is now available. Pulmonary arteriovenous malformations (PAVMs) are abnormal blood vessels that connect pulmonary arteries directly to pulmonary veins, creating an anatomic right-to-left shunt, …
The much anticipated Clinical Patient Management System (CPMS) was released by the European Commission (DG SANTE) on Monday, November 20th, 2017 at 12:00 CET! This secure web-based application will be the platform where healthcare professionals from the European Reference Networks (ERNs) discuss real patient cases. The first few months will …
Rare disease UK has created a survey for rare disease patients and their families. The goal is to gather valuable information about the emotional impact of living with a rare disease in order to improve the support offered to patients and their families in the future. Link to the survey here