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June 04, 2019
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A CRISPR Study to Decipher the Role of Genetic Risk Variants in Glaucoma


Assistant Professor of Ophthalmology, University of California San Diego, Shiley Eye Institute

This webinar will discuss a study that used CRISPR/Cas9 to engineer mice harboring risk variants associated with glaucoma in order to assess their functional relevance. 

Glaucoma is a group of diseases with diverse molecular mechanisms of pathogenesis, all of which converge on a common pathway leading to typical optic nerve damage, loss of retinal ganglion cells, and consequently loss of vision. Retinal ganglion cells (RGCs) are the brain’s only connection to the outside world and, despite numerous studies, there is not yet a successful therapy to prevent their loss in glaucoma. Recent advances in genomics have allowed researchers to describe the association between the risk of glaucoma and specific genomic loci. Several studies have identified the nonsynonymous coding variant SIX6-(rs33912345 His141Asn) as strongly associated with glaucoma.

Our speaker, Dorota Skowronska-Krawczyk, PhD, will discuss an effort that sought to directly assess the functional relevance of the SIX6 risk variant in eye function. Dr. Skowronska-Krawczyk and colleagues used CRISPR/Cas9 technology to engineer mice harboring human risk variants and non-risk variants of SIX6. They then used immunostaining and visual evoked potential approaches to determine that the SIX6-His variant is indeed causing more cell death and vision loss.

Dr. Skowronska-Krawczyk will discuss how her team used NanoCellect’s WOLF Cell Sorter to sort the RGCs required for this study. The live, purified RGCs, isolated from retinas three days after intraocular pressure elevation, were assessed for transcriptional and epigenetic changes in the context of the SIX6 genetic variant. Sample preparation steps and bioinformatic analysis of the findings will also be presented.

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