Publications by authors named "Shana Routledge"
Orphanet J Rare Dis
May 2021
Article Synopsis
- Inherited retinal degenerations (IRD) are rare genetic disorders with over 300 known genetic loci that cause progressive visual dysfunction, but they historically lacked effective treatments requiring improved diagnosis and management pathways.
- The Target 5000 initiative in Ireland, developed through expert surveys, focused on detailed patient assessment and genetic testing to create personalized care plans with a multidisciplinary team, ultimately identifying pathogenic variants in 62.3% of patients.
- The program resulted in significant cost savings, improved patient engagement, and a model for future IRD programs, showing promise for discovering new genetic variants and treatment options.
