Highlighting the two projects I contributed to as a Yale Research Affiliate Sponsored Identity. Students and trainees can register for virtual attendance for free!

A High-Throughput Assay for Measuring Ribitol Response Across FKRP Variants

The assay employed in this project was dear to my heart. I was literally working remotely on analyzing the proof-of-concept experiments when I was at the airport waiting for my plane to depart the US after my graduation. It is exciting to see the pseudotyped lentiviral assay I initiated can indeed work. My friend Dr. Yujiao Yang will give an oral presentation on how she actually made the idea work and showcase her exciting results.

High-Throughput Functional Mapping of Sarcoglycan Variants: A Pre-Clinical Framework for Improving Limb-Girdle Muscular Dystrophy Diagnosis

AI predictors for variant effects are getting better and better, but they perform amazingly for some genes but not others. The sarcoglycan genes are examples of scenarios where AI predictors don’t perform very well. My friend Dr. Shushu Huang will give an oral presentation on how she characterized all possible SGCA coding SNVs using the SMuRF workflow I established along with an ingeniously designed and rigorously tested assay.