Rare Disease Day took place this year on February 28th, 2022 and VASCERN was happy to participate in this annual event that celebrates the rare disease community and aims to raise awareness, while highlighting the importance of attaining equity in social opportunity, healthcare, and access to diagnosis and therapies for the 300 million people living with a rare disease around the world.
On the VASCERN Twitter account we also held a VASCERN Rare Disease Day Quiz (#VASCERNRDDayQuiz) that included questions related to the ERNs and the diseases covered by our network. In case you missed it, here are the questions and answers (in bold) below.
1) How many European Reference Networks (ERNs) for Rare and Complex Diseases are there currently?
6) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary cerebral small vessel disease that is inherited in an autosomal dominant manner. This means that each child of an affected person has a risk of what percent of inheriting the pathogenic variant and developing the disease?
7) Vascular Ehlers-Danlos syndrome (#vEDS) is an inherited connective tissue disorder that is caused by a mutation in the COL3A1 gene (or rarely the COL1A1 gene) that encodes a component of which structural protein?
c) amino acids
To learn more about this topic watch the VASCERN Webinar: On collagen, Ehlers-Danlos Syndromes and vascular fragility: what’s in a name? https://youtu.be/ArGxkB-MB4k
We look forward to next year’s Rare Disease Day but remind you all to continue to raise awareness for rare diseases every day of the year!