Huge thanks to the funders for facilitating this work, and to the patients for providing the foundational material for the study.
More to come - watch this space!
@fightforsight.bsky.social

We stratified patients carrying the same LHON-associated mutation by visual recovery status and provide evidence suggesting that differential secretory profiles may mediate visual recovery outcomes, in line with recent trends in glaucoma and other #neurodegenerative conditions. (6/n)

Here, we provide some of the first evidence demonstrating that a LHON-associated mutation alters astrocyte morphology, bioenergetic dysfunction (increased glycolysis and reduced OXPHOS), activation of pro-inflammatory signalling and a pro-inflammatory secretory profile (5/n)

poorly understood. We also do not understand the mechanistic basis for measurable spontaneous improvements in central vision associated with LHON after disease has manifested. This could be crucial for developing new therapeutic interventions for LHON. (4/n)

of retinal ganglion cells. Despite decades of research, therapeutic approaches for LHON remain limited. Recent trends in other neurodegenerative diseases implicate glial dysfunction in pathology but to date the potential role of #glialdysfunction in LHON pathology remains (3/n)

Using a patient-derived iPSC model, we examined the role of astrocytes in the maternally inherited condition Leber’s Hereditary Optic Neuropathy (LHON). LHON is a maternally inherited condition in which patients experience painless, (sub)acute, bilateral vision loss, associated with the loss (2/n)

Congratulations Tanya (and the rest of the gang too)!🥳

“Why sir, it’s AI bubble collapse day”