Conditions

Several large studies have shown overlaps between ocular discomfort and chronic pain conditions (CPCs) due to central sensitization, altered nociceptive modulation, and high rates of non-pain CNS-mediated symptoms including mood and sleep. Chronic pain conditions are strongly associated with dry eye disease and eye care professionals should consider the diagnosis as a risk factor for the…

Whole-genome sequencing (WGS) projects for rare disease diagnosis typically yield a diagnostic rate of 25–41%, depending on the methods for patient selection and the extent of prior genetic testing. The Scottish Genomes Partnership (SGP) is a collaborative programme using genome sequencing to diagnose rare disease patients with presumed monogenic aetiology in the Scottish NHS. Within…