Beyond Earphones and Gaming: Understanding Usher Syndrome and the Importance of Genetic Testing
The Historical Context: Helen Keller Helen Keller is widely recognized for her remarkable life lived with combined hearing and visual impairment. What is less commonly known is that her condition resulted from a severe childhood infection. In contrast, in the modern era, a comparable dual sensory impairment affects thousands of adolescents worldwide, not due to […]
The Clinical Utility of Whole Exome Sequencing in Rare Disease to End The Diagnostic Odyssey
Rare diseases collectively affect an estimated 6–8% of the global population, yet individually they remain difficult to diagnose due to phenotypic heterogeneity, overlapping clinical features, and limited clinician familiarity. Patients, particularly children, often endure a prolonged and costly journey known as the “diagnostic odyssey”, characterized by repeated hospital visits, inconclusive tests, invasive procedures, and years […]
