Left-right patterning defects associated with Axenfield-Rieger syndrome

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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Facial development

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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Special Issue on Ophthalmic Genetics: Vision in 2020

The recent special issue of the American Journal of Medical Genetics; Seminar in Medical Genetics (Volume 184, Issue 3) includes contributions from four AVN labs: Waskiewicz, Lehmann, Walter, and MacDonald. Check out the issue to learn more about ocular coloboma, retinal dystrophies, and more: AJMG Ocular Genetics

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Congrats to Nate Nadolski

Nate defended his MSc thesis (Form and Function of Photoreceptors in kcnv2 Mutant Zebrafish: Implications for the Human Disease KCNV2 Retinopathy) last Thursday. After giving a great talk, he passed without revisions! Congrats to Nate on being the first student to graduate from the Hocking lab, and all the best to him as he starts…

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Highlights from the Casey Lab

Darpan Malhotra defended his PhD in June 2019, with Bob Molday doubling as his external examiner and our AVN Research Day keynote speaker (see photo of Bob, Darpan, and Joe). The Casey lab is still publishing papers based on Darpan’s impressive body of work about the SLC4A11 corneal transporter. To learn more, check out these…

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New ERG method for zebrafish

A recent paper from the Hocking Lab describes a simple method for obtaining electroretinogram measurements from zebrafish. Excitingly, it works for larval, juvenile and adult fish. Well done Nate Nadolski on your success following painstaking work to develop the new procedure. Nadolski NJ, Wong CXL, Hocking JC. Electroretinogram analysis of zebrafish retinal function across development. Doc…

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PMEL mutations cause pigmentary glaucoma

A paper in press at Human Molecular Genetics (Lahola-Chomiak et al., https://www.ncbi.nlm.nih.gov/pubmed/30561643) reports the results of a collaboration led by Dr. Michael Walter, and involving the Lehmann and Allison labs. This work discovered the first causative gene for pigmentary glaucoma, a common subtype of glaucoma, which represents the leading cause of irreversible blindness worldwide. Dr.…

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Telodendria research from the Allison Lab

Telodendria are delicate structures that connect photoreceptor cells to one another and allow for information to be shared laterally between them. Despite their discovery in the late 19th century, telondendria are not widely known or well characterized in vision science. Nicole Noel recently studied these poorly understood features of photoreceptors in the zebrafish retina during…

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