Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.

Kirk A J StephensonJulia ZhuNiamh WynneAdrian DockeryRebecca M CairnsEmma DuignanLaura WhelanConor P MaloneHilary DempseyKaren CollinsShana RoutledgeRajiv PandeyElaine CrossanJacqueline TurnerJames J O'ByrneLaura BradyGiuliana SilvestriPaul F KennaG Jane FarrarDavid J Keegan

Published in: Orphanet journal of rare diseases (2021)

Target 5000 demonstrates efficacious and efficient clinical/genetic diagnosis, while discovering novel IRD-implicated genes/variants and investigating mechanisms of disease and avenues of intervention. This model could be used to develop similar IRD programmes in small/medium-sized nations.

Keyphrases

genome wide
copy number
randomized controlled trial
optical coherence tomography
diabetic retinopathy
gene expression
dna methylation
bioinformatics analysis
optic nerve