A Genetic Answer for a Rare Disease: Southeast Asian Ovalocytosis Case from Indonesia
For many families affected by rare diseases, obtaining a clear diagnosis can become a long and challenging journey. Patients may undergo multiple laboratory tests, specialist consultations, and hospital visits over several months or even years without finding a definitive answer. This uncertainty not only creates emotional stress for families, but can also make clinical management […]
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 […]
