罕见病研究揭示精准医学的未来

Rare disease researchers have long known that viewing each patient as a source of insight rather than a single data point is critical to developing the most effective treatments. BY ANNE FORTIER, PhD F or decades, rare disease research was treated as noble but inciden- tal, peripheral to the pharmaceu- tical industry’s market-driven priorities. While blockbuster drug discovery focused on the “average patient” and the pursuit of high-volume, high-profit medicines, the rare disease community worked under very different conditions: small patient cohorts, limited data, and diseases whose root causes were often poorly understood. …