Developmental disorders: deciphering exomes on a grand scale

Jozef Gecz,Mark Corbett

doi:10.1016/s0140-6736(14)62122-x

Abstract

Developmental disorders: deciphering exomes on a grand scale

Highlights

I consult for Carl Zeiss Meditec and Allergan, and have received honoraria for speaking from Allergan, Merck Sharp & Dohme, and Santen
I expect this to be the first of a series of papers reporting UKGTS results; additional findings will be reported in future, notably those that compare the results obtained with visual field testing with those of ophthalmic image analysis
Several excellent how-to exome guides, most of which tackle the difficult tasks of sorting pathogenic from non-pathogenic DNA and protein variants, using disease inheritance models or a de-novo mutation hypothesis combined with an appropriate selection of bioinformatics tools and laboratory validation methods, have been proposed.[6,7,8]

Summary

PUBLISHED VERSION

Comment field status is the gold standard, and visual field sensitivity is important to patients. In recent years some researchers have stated that studies using visual field endpoints take too long, and that it is too difficult to assess the effects of new drugs or other treatments. Garway-Heath and colleagues clearly show that this view is pessimistic, and that, with frequent testing with widely available clinical instruments, important studies can be completed within a very reasonable time. I expect this to be the first of a series of papers reporting UKGTS results; additional findings will be reported in future, notably those that compare the results obtained with visual field testing with those of ophthalmic image analysis

Anders Heijl

Findings

School of Paediatrics and Reproductive Health and Robinson