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Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations
Adrian Dockery1, Kirk Stephenson2, David Keegan3
1The School of Genetics & Microbiology, Trinity College Dublin, Dublin 2, Ireland. dockerya@tcd.ie.
Genes
|November 4, 2017
Summary
Genetic testing for inherited retinal degeneration (IRD) in Ireland identified pathogenic mutations in 68% of families. This study advances understanding of IRD genetic landscape and improves access to potential therapies for affected individuals.
Area of Science:
- Genetics
- Ophthalmology
- Medical Diagnostics
Background:
- An estimated 5000 individuals in Ireland are affected by inherited retinal degenerations (IRDs).
- Accurate genetic diagnosis is crucial for understanding IRD and accessing targeted therapies.
- Previous genetic studies in the Irish population for IRDs have been limited.
Purpose of the Study:
- To provide genetic diagnoses for individuals with IRDs in Ireland.
- To enhance understanding of the genetic landscape of IRDs within the Irish population.
- To improve patient access to relevant diagnostic and therapeutic options.
Main Methods:
- Target capture next-generation sequencing was employed for over 750 patients from 520 pedigrees.
- Retrospective analysis methods were developed for detecting structural variants in existing sequencing data.
- Data analysis focused on identifying pathogenic or likely pathogenic mutations.
Main Results:
- Pathogenic or likely pathogenic mutations were identified in 68% of the tested pedigrees.
- Nearly 30 novel mutations were discovered, including three large structural variants.
- Population statistics were correlated with specific gene mutations and IRD conditions.
Conclusions:
- Genetic diagnosis is highly effective in identifying causative mutations for IRDs in Ireland.
- The study provides a comprehensive genetic profile of IRDs in the Irish population.
- Future work will focus on structural and non-coding variants to further increase detection rates.
