The transcription factor FOXC1 is a major cause of the autosomal dominant genetic disease Axenfeld-Rieger syndrome (ARS). Most ARS patients suffer from early-onset glaucoma which eventually leads to blindness; however extra-ocular phenotypes are also common. Cardiac septal defects and valve insufficiency arises in 10-15% of FOXC1-associated ARS cases but the etiology is poorly understood. Chrystal…

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Beyond studying eyes, some of our AVN labs also pay attention to surrounding structures. Congratulations to Pranidhi Baddam (PhD Student) from the Graf lab for recent publications in the Journal of Anatomy and Disease Model and Mechanisms. Her work characterizes normal maturation of nasal septum cartilage, and the abnormal midfacial development in mice with neural…

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