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Welcome to the February edition of the VASCERN newsletter! As we dive into the updates of these month, we are excited to share valuable insights and resources related to rare multisystemic vascular diseases. Thank you for being an integral part of our community! |
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Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study |
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Heritable thoracic aortic diseases (HTAD), typically entailing aortic complications, can be caused by pathogenic variants or likely pathogenic variants
(PV/LPVs) in several genes, including fibrillin1 (FBN1), Actin Alpha2 (ACTA2) and genes encoding components of the transforming growth factor (TGF)-β signaling
pathway. In addition to aortic complications, non-aortic cardiac disease such as impaired myocardial function and/or arrhythmia have been increasingly reported,
mainly in Marfan syndrome with underlying FBN1 PV/LPVs and are acknowledged as additional causes of morbidity and mortality. The prevalence of these
manifestations in the various HTAD entities is largely unknown |
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Vascular Anomalies Working Group (VASCA-WG) February Case Discussions |
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The Inaugural VASCERN Summer School Kicks Off! |
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EU to introduce Disability Card to Facilitate Free Movement for Persons with Disabilities |
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Rare Disease Knowledge (RDK) App Wins Digital Innovation Award |
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IRDiRC paper: Drug Repurposing for Rare: Progress and Opportunities for the Rare Disease Community |
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VASCERN’s Vascular Anomalies Working Group Secures EJP RD Joint Transnational Call 2023 Grant |
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Associazione Fondazione Italiana HHT Onilde Carini |
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The Associazione Fondazione Italiana HHT Onilde Carini is a patient organization in Italy, committed to enhancing the lives of individuals with Hemorrhagic Telangiectasia (HHT) through patient aid, education, and backing clinical and genetic research. |
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Genetic Testing for primary lymphedema - a mother's perspective |
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This Pill of Knowledge (PoK) features a mother's perspective in German on the importance of genetic testing and receiving proper genetic counselling when primary lymphedema is diagnosed in a family and how reaching out to a patient association can be of great support. Subtitles available in English, French, Portuguese, Swedish, Norwegian, Finnish, Italian, Slovenian, Spanish, Dutch and Danish. |
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Arterial Complications of Vascular Ehlers-Danlos Syndrome (vEDS) |
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In this Pill of knowledge (PoK), Dr. Michael Frank gives a complete overview of the arterial complications associated with Vascular Ehlers-Danlos Syndrome (vEDS) and the most common treatment for each type of complication. Subtitles available in Dutch, French and Italian. |
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How is the aorta monitored? |
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In this Pill of Knowledge video, Dr. Gisela Teixido-Tura gives an overview of the anatomy of the aorta as well as the imaging techniques used to visualize the aorta in Heritable Thoracic Aortic Diseases (HTAD). Subtitles available in Dutch, French,German, Greek, Hungarian, Italian, Spanish and Swedish. |
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HHT and the Lungs |
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This is the full replay of our webinar on Hereditary Hemorrhagic Telangiectasia (HHT) and the Lungs with an interactive Q&A session. |
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Diagnostic and Management Pathway for Lymphatic Malformations |
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This is the full replay of our webinar on the Diagnostic and Management Pathway for Lymphatic Malformations |
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Rare Disease Day |
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The last day of February is dedicated to raising awareness of rare diseases, which affect over 300 million people worldwide. Join us in raising awareness about rare diseases, check out our resources to educate yourself and others, and light up for rare on 29 February 2024. |
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Marfan Awareness Month |
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The month of February is dedicated to raising awareness of Marfan syndrome, a rare vascular disease that affects the connective tissues of the body. We have a group dedicated to this condition and many resources to help you learn and stay informed. |
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12 - 13 February 2024 |
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VASCERN VASCA-WG Winter Meeting |
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15 February 2024 |
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VASCERN NEUROVASC-WG Monthly Meeting |
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19 February 2024 |
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VASCERN PPL-WG Monthly Meeting |
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23 February 2024 |
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VASCERN HHT-WG Monthly Meeting |
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26 February 2024 |
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VASCERN HTAD-WG Monthly Meeting |
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29 February 2024 |
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EMA Webinar: Orphan Medicines Development – Ask the European Regulator |
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29 February 2024 |
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Workshop on Patients’ Rights and Rare Diseases |
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15 - 16 May 2024 |
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12th European Conference on Rare Diseases |
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27 - 28 May 2024 |
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EJP RD Final Conference |
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Don't miss out on the latest discussions, achievements, and updates on our social media platforms. Follow VASCERN on social media to stay engaged with our vibrant community. |
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