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

doi:https://doi.org/10.1186/s13023-021-01841-1

Open AccessLetter10.1186/s13023-021-01841-1

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

Kirk Stephenson,Julia Zhu,Niamh Wynne,Adrian Dockery,Rebecca Cairns,Emma Duignan+14 more-2021-05-05-Orphanet Journal of Rare Diseases

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TL;DRAbstract

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.

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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.

Keywords

Psychological intervention Genetic testing Genetics Exome Medicine Bioinformatics Exome sequencing Biology

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