Roly D. Megaw

The paper identifies common early defects in autophagy and mitochondrial damage in multiple IRD models, leading to necroptosis and photoreceptor loss, suggesting potential gene-agnostic therapeutic targets.

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

The paper introduces FIVER, a multispectral reporter for in vivo genome editing that detects NHEJ, HDR, and HITI with fluorescent read-outs, demonstrating its utility in primary cells, organoids, and in vivo models.