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Research-in-Progress (RiP): August 1 Presentation
Presenter: Antionette L. Williams, PhD
Research Scientist, Bohnsack Lab, Ann & Robert Lurie Children's Hospital of Chicago
Presentation Title: Zebrafish model of Stickler syndrome suggests a role for collagen 2A1 in the neural crest during early eye development
Presentation Description: Stickler Syndrome is a congenital disease characterized by distinctive facial abnormalities, severe visual impairments, hearing loss, and joint problems. Although approximately 75% of cases of Stickler syndrome reflect autosomal dominant mutations in the fibrillar type II collagen gene (COL2A1), which plays an important role in cartilage and bone formation, the specific role of this gene in eye development has not been well-defined. Here, we use zebrafish as a model system to study the expression of Col2A1 within the neural crest and examine the mechanisms underlying the craniofacial and ocular abnormalities in Stickler syndrome to reveal the role of Col2A1 in eye development.
Presentation Title: Zebrafish model of Stickler syndrome suggests a role for collagen 2A1 in the neural crest during early eye development
Presentation Description: Stickler Syndrome is a congenital disease characterized by distinctive facial abnormalities, severe visual impairments, hearing loss, and joint problems. Although approximately 75% of cases of Stickler syndrome reflect autosomal dominant mutations in the fibrillar type II collagen gene (COL2A1), which plays an important role in cartilage and bone formation, the specific role of this gene in eye development has not been well-defined. Here, we use zebrafish as a model system to study the expression of Col2A1 within the neural crest and examine the mechanisms underlying the craniofacial and ocular abnormalities in Stickler syndrome to reveal the role of Col2A1 in eye development.