David M. Gamm

Genome-Wide CRISPR Screening Identifies Cellular Factors Controlling Nonviral Genome Editing Efficiency

The paper uses CRISPR screening to identify genes that enhance nonviral genome editing efficiency in human cells, finding six genes that increase editing efficiency by up to five-fold.

CTCF regulates wild-type and recombinant AAV gene expression by shaping viral chromatin

This study identifies a CTCF-binding element in the wtAAV2 genome that enhances rAAV transgene expression by shaping chromatin structure, offering a strategy to improve gene therapy vectors.

Prevenying vision loss in a mouse model of Leber Congenital Amaurosis by engineered tRNA

This study demonstrates that engineered tRNA can restore vision in a mouse model of Leber Congenital Amaurosis by suppressing a premature termination codon.

Evaluation of subretinally delivered Cas9 ribonucleoproteins in murine and porcine animal models highlights key considerations for therapeutic translation of genetic medicines

This study evaluates subretinal delivery of Cas9 ribonucleoproteins in mice and pigs, showing variable editing efficiency and highlighting species-specific challenges for therapeutic translation.

Nonviral base editing of KCNJ13 mutation preserves vision in an inherited retinal channelopathy

This paper demonstrates nonviral base editing of a KCNJ13 mutation in a mouse model of retinal degeneration, preserving vision through functional rescue of Kir7.1 channels.

Human photoreceptors switch from autonomous axon extension to cell-mediated process pulling during synaptic marker redistribution.

This study investigates how human photoreceptor axons extend during development and regeneration, finding that they transition from autonomous growth to process pulling mediated by non-PR cells.

Human iPSC modeling reveals mutation-specific responses to gene therapy in Best disease

This study uses iPSC-RPE models to evaluate gene augmentation and editing for Best disease, finding that some mutations respond to gene therapy while others require genome editing.

A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.

The paper combines whole genome sequencing and retinal organoid transcriptome analysis to identify and validate a novel non-coding pathogenic variant in a family with an unresolved genetic diagnosis.

Gene augmentation and read-through rescue channelopathy in an iPSC-RPE model of congenital blindness

The paper tests read-through drugs and gene therapy in patient-derived iPSC-RPE cells with a KCNJ13 mutation to restore Kir7.1 channel function and rescue channelopathy in LCA16.