Is your flexibility genetic: Ehlers Danlos Syndrome

Presenter's Name(s)

Holly Snyder

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.

Primary Faculty Mentor Name

Melissa Pespeni

Status

Undergraduate

Student College

College of Arts and Sciences

Program/Major

Neuroscience

Primary Research Category

Life Sciences

Abstract only.

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Is your flexibility genetic: Ehlers Danlos Syndrome

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.