Genetics of vascular Ehlers-Danlos syndrome (vEDS) : Part 1 - Pathogenic variants in COL3A1 by Dr.Ingrid van de laar, Clinical geneticist, Erasmus Medical Center, Rotterdam, The Netherlands.
The Genetics of vascular Ehlers-Danlos syndrome (vEDS) are explored in three videos. In this video, part 1 of 3 - Pathogenic variants in COL3A1 - The gene COL3A1, which is found to be mutated in most patients with vEDS, is presented and explanations are given on how it encodes an important component of the collagen fibers. The types of molecular genetic testing for variants in the COL3A1 gene are also briefly covered. Intended for medical students, trainees or other healthcare professionals
This Pill of knowledge (PoK) video was filmed at the Medium-Sized Arteries Working Group (MSA WG)'s face to face meeting and vascular Ehlers-Danlos syndrome (vEDS) study day in London on July 1st, 2019 with support from the Ehlers-Danlos Society.
PoKs are the deliverable for VASCERN Work Package 4 on Pills of Knowledge, defined as short single video lessons in which an expert talks about a specific topic that has been selected and validated by the Rare Disease Working Groups (RDWGs).
To learn more about the MSA-WG: vascern.eu/expertise/rare-dis...