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WES uncovers mutations for rare paediatric diseases Shannon Gunn 19 February 2021 Using whole-exome sequencing (WES), researchers have identified underlying variants in children with rare genetic paediatric diseases. Rare genetic paediatric diseases Although rare genetic diseases are individually uncommon, they collectively impact significant numbers worldwide. There are approximately 7,000 rare diseases that affect around 250 million people. These disorders encompass a spectrum of complex clinical manifestations that can be difficult to diagnose and pinpoint causation. Unfortunately, clinics within developing countries are not currently equipped with technologically advanced health facilities to effectively diagnose and treat rare disease patients. In Bangladesh, genetic tests are not widely used in a clinical setting and are mostly used in research. The current standard of care in most developing nations does not include first-tier genetic testing.

Genomic medicineBiedl syndromeLeigh syndromeலே நோய்க்குறி