October is Blindness Awareness Month. (Don’t forget that World Sight Day is coming up next week!) Also, in a way, next generation sequencing (and sequencing, in general) is all about making invisible information “perceivable”, so I thought it would be a good idea to collect some articles about what “hidden knowledge” can NGS reveal about eyes and vision.

Bona fide colour: DNA prediction of human eye and hair colour from ancient and contemporary skeletal remains Draus-Barini et al. 2013

Although, next generation sequencing was not used in this study, this paper is so cool, that I just had to put it on the list. The researchers used a SNP-based approach for predicting eye and hair colour, so in theory, a very similar NGS based method could’ve been used for the same thing. I personally have some doubts about the possible uses of this method (e.g. hand-picking blond, blue-eyed embryos), but the usefulness of the approach is indubitable (think about criminal investigations or forensic anthropology, for example).

Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease Zaneveld et al. 2013

This article has all the recent buzzwords of the NGS community, which I personally find kind of suspicious, but it provides a great comparison of array-based and NGS-based diagnostics methods for three retinal diseases (Leber’s Congenital Amaurosis, Retinitis Pigmentosa, and Stargardt’s disease) and gives a short glimpse into gene therapy as well.

Evolution of the Eye Transcriptome under Constant Darkness in Sinocyclocheilus Cavefish Meng et al. 2013

This is a nice paper about possible mechanisms behind eye-degeneration in troglobite animals. (No, troglobite has nothing to do with Dungeons & Dragons.)