Doctors and scientists working on #PAX6 & aniridia: don't miss out on attending the European Aniridia Conference in April 2026. #EuroAniridiaConf
Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families
Researchers identified two novel #PAX6 mutations in Chinese #Aniridia families, expanding the genotypic and phenotypic spectrum and detailing the clinical traits of PAX6 haplotype deficiency. #medsky
Read more: link.springer.com/article/10.1...
#ICYMI
Check out my new article at @the-node.bsky.social where Alice and Alejandro share #behindthepaper stories !
Come for the science, stay for learning about curiosity, philosophy, mentorship & joy of discovery!
#devbio #regeneration #stemcells #scicomm
#pax6 #cellbio #eye #organogenesis
Quote graphic featuring a photo of a human eye and the quote: "A wide variety of model systems have been utilised to understand the function of PAX6 in early eye development, but divergence of developmental mechanisms means findings do not always translate to humans ... Stem cell-derived 3D retinal organoids have become a robust tool for studying early eye development, with self-organisation of cells into distinct layers of the neural retina (NR) reflecting in vivo organogenesis." Attributed to Harding P, Owen N, et al. (2025). doi:10.1016/j.bbadis.2025.167869
Using patient-derived optic #organoids and #multiomics analysis, researchers discovered a new role for #PAX6 in regulating SOX2 and Notch signaling during early eye development, offering mechanistic insight into PAX6-related ocular disorders.
doi.org/10.1016/j.bb...
#devbio 🧪
“Understanding how the snails re-create or repair their eyes might lead to therapies to heal people’s eye injuries or reverse diseases such as macular degeneration.”
#scicomm
#regeneration
#crispr
#pax6
www.sciencenews.org/article/snai...
🧪 🧠 👁️ 🐚 🐙
UK doctors and scientists interested in #aniridia. We have a #grant for you cofunded with @fightforsight.bsky.social.
Application deadline 16 July 2025.
aniridia.org.uk/2025/06/03/a...
Please share.
#MedicalResearchFunding #ResearchGrants #RareDiseaseResearch #SightLossResearch #PAX6
Well done Dr Pippa Harding, my PhD student @ucleye.bsky.social who grew eye cups from a patient with a missense variant in the #PAX6 paired domain causing #microphthalmia & a typical #aniridia patient. SOX2 and Notch pathways were dysregulated. Disease insights: www.sciencedirect.com/science/arti...