Story perspectives
Rare Disease Diagnoses Surge Amidst Innovation Challenges
8/30/2025
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Story summary
- Genetic testing and enzyme assays contribute to rising diagnosis rates for rare diseases.
- Adoption of enzyme replacement therapies (ERTs) and new gene therapies is increasing.
- High costs, limited expertise, and complex regulations hinder access and diagnosis.
- Collaboration among pharmaceutical companies, biotech firms, and research institutes is crucial for innovation.
