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Can Genomics Solve Rare Diseases?

Experts discuss why half of rare disease cases remain unsolved and how advanced genomics could improve diagnostic yield

  • March 24, 2026

  • 10 min

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The diagnostic journey for rare diseases affects about 300 million people globally, with approximately half of cases remaining unidentified through traditional methods. Experts Ryan Taft and Stacy Musone emphasize the challenges of current diagnostic technologies, which often miss complex genetic variants. They highlight the importance of multidisciplinary approaches in diagnosing rare diseases, and advancements like long-read whole genome sequencing and artificial intelligence are seen as key to improving diagnostic accuracy and efficiency. A proactive, integrated future for rare disease diagnostics is envisioned, combining genomic testing and data analysis for better patient outcomes.

Original Source(s)

Can Genomics Solve Rare Diseases?

  • March 24, 2026

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