VFT Funds Innovative Research to Understand Early Eye Development in Aniridia and Albinism
The Vision for Tomorrow Foundation is excited to support first-of-its-kind research with the University of Virginia (UVA) to understand initial steps in eye formation and the consequences for aniridia and albinism.
The research project established for the first time a protocol to examine genes expressed in individual cells to compare differences in wild type (“typical”) embryos and embryos having the PAX-6 gene mutation that causes aniridia. Harnessing a technology only developed in the past several years, researchers from UVA and The Netherlands isolated nuclei in individual cells in frog embryos at the early stages of eye development – which has never been done before.
The technology clusters similar cells together into groups, enabling detailed analysis of the differences in the wild type and PAX-6 mutants at distinct stages of development and analysis of the complex network of genes of which PAX-6 is part. This technological breakthrough was published this summer in “Cold Spring Harbor Protocols.”
“The project has produced exciting new data revealing that there are different genetic circuits regulated by PAX-6 for generating different tissues in the eye,” said Robert Grainger, PhD, the W.L. Lyons Brown Professor of Biology at UVA and and lead researcher on the project. “The findings are invaluable for understanding normal development of these organs as well as for determining how to approach treatments targeting different eye tissues affected by aniridia.”
Additional steps in the project will be looking at similar analysis for OCA-2 albinism.
“The initial research to establish protocols provides a variety of opportunities to further identify the root causes of these differences,” said Susan Wolfe, President, VFT, “Not only what went wrong during development but why and to then come up with options to help fix or adjust issues related to the gene expression and activity in those with a mutation.”
This VFT funded research and additional work to follow would not be possible without the generous support of VFT donors and volunteers. Please consider a donation to VFT to fuel more important scientific findings that can help to better understand and more effectively treat ocular complications related to aniridia and albinism.