The Role of Data in Rare Disease Diagnosis

Data plays a crucial role in diagnosing rare diseases, which affect approximately one in 14 individuals. By utilizing genetic sequencing and cross-referencing information from global databases, healthcare professionals can connect patients with similar genetic mutations to identify potential treatments. This rapid data analysis has significantly improved the diagnosis timeline from ten years to just two or three days in recent years. However, concerns arise as political changes threaten the accessibility and sharing of vital health data, potentially reversing advancements made in the rare disease community.