8th May 2024
It is remarkable and inspiring to watch the diverse range of applications facilitated by the PhenoSys qOMR. In the five latest publications at hand, the qOMR has been key in providing significant insights across various research domains. Congratulations to the research teams on these noteworthy publications.
Studying Optic Neuropathies
Gan et al. (1) demonstrate the involvement of the Slit-Robo signaling pathway in retinal ganglion cell degeneration and its neuroprotective potential. In a chronic optic neuropathy model, the reduction of SRGAP2 (Slit-Robo GTPase-activating protein 2) increased retinal ganglion cell survival. The qOMR test revealed reduced visual performance in wildtype mice of the optic nerve crush model, while retinal function was partially restored in Srgap2+/- mice.
Studying Eye Development
Cole et al. (2) characterized the defects in retinal structure and vision during postnatal development in Pax6 small-eye mice. The homeobox gene PAX6 plays a pivotal role in ocular development, and this study demonstrates that its haploinsufficiency leads to a steady, age-dependent decline in visual acuity. Impressively, longitudinal qOMR measurements from day 15 up to day 120 beautifully described this visual decline.
Studying Stem Cell-Based Therapeutic Interventions in Rats
The group around Akon Higuchi (3) from Wenzhou Medical University investigated the efficacy of various types of stem cells in treating retinal degeneration in a rat model. Each stem cell line administered exhibited a beneficial effect on qOMR testing, consistent with the results of electroretinography evaluation. However, the treatment effect proved to be transient, with human induced pluripotent stem cell-derived retinal pigment epithelium (hiPSC-derived RPC) cells demonstrating the most promising therapeutic potential.
Studying Genome Editing and Gene Therapeutic Interventions
The homology-independent targeted integration (HITI) method represents a promising gene-editing technique for therapeutically correcting mutations. In their study, Onishi et al. (4) introduced an efficient workflow for this technique, targeting the rhodopsin gene in a mouse model of retinitis pigmentosa. They successfully suppressed the degeneration of photoreceptor cells. Interestingly, the therapeutic effect was only evident in the left eye, as only this eye had received the active HITI treatment.
Liu et al. (5), in their report published in JBC, explored an alternative tool for in vivo genome editing, namely adenine base editors (ABE). Using this technique, they targeted splice sites of Peroxidasin in mouse embryos. The resulting homozygous offspring recapitulated the corresponding human disease phenotype, as evidenced by the abolished visual performance of these mice in qOMR testing.
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