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Is your flexibility genetic: Ehlers Danlos Syndrome

Snyder, Holly
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Abstract
Ehlers-Danlos Syndrome (EDS) is a genetic condition that affects connective tissues, resulting in symptoms like joint hypermobility, skin elasticity, and tissue fragility. The Classical type of EDS (cEDS) is caused by mutations in the COL5A1 or COL5A2 genes, which affect collagen production and the strength of connective tissues. cEDS is inherited in an autosomal dominant pattern, meaning that a person only needs one copy of the mutated gene from a parent to develop the condition. The Brighton Scale is commonly used to assess joint hypermobility by evaluating joint flexibility and other physical signs. Early diagnosis and genetic testing are essential for managing the condition.
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Date
2025-05-29
Student Status
Undergraduate
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Poster Presentation
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UVM Student Research Conference
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URI
https://hdl.handle.net/20.500.14849/8935
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Advisor(s)
Melissa Pespeni
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Program/Major
Neuroscience
College/School
College of Arts and Sciences
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Life Sciences
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