Development Of A Rapid And Cost-Effective Crispr-Based Molecular Detection Platform For A Novel Myocilin Mutation In Rural Philippines

Purpose: Juvenile onset primary open angle (JOAG) glaucoma is an important cause of blindness worldwide. We identified a novel disease-causing myocilin (MYOC) mutation in a large extended Filipino family residing in a remote Philippine island. MYOC genetic testing is necessary to identify individuals at risk for glaucoma in this remote region, however access to eye care and genetic services is difficult in this community. The purpose of this study is to develop a low-cost and easily accessible genetic testing platform for this community using a CRISPR (Clustered Regularly Interspaced Short Palindromic Repeat) based genetic diagnostic method, Specific High-Sensitivity Enzymatic Reporter UnLOCKing (SHERLOCK). SHERLOCK can be performed in a clinic-based setting at reduced cost.Methods: Using SHERLOCK, we developed an assay to detect a novel MYOC mutation (c. 1515A> G.* 505Wext* 42 …