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Closing the Genomic Gap in Rare Disease

Ahead of Rare Disease Day, leaders from iHope and PacBio explore how technology, collaboration, and policy reform can bring accurate genomic diagnosis

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  • February 27, 2026

  • 8 min

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  • 1

    iHope Network aims for equitable access to genetic testing.

  • 2

    It supports over 1,000 patients annually in 14 countries.

  • 3

    Long-read sequencing enhances diagnostic precision.

  • 4

    Systemic barriers hinder access to testing globally.

  • 5

    Understanding genetic mutation distribution is crucial in rare diseases.

  • 6

    Collaboration and harmonized standards are needed in rare disease research.

Original Source(s)

Closing the Genomic Gap in Rare Disease

Ahead of Rare Disease Day, leaders from iHope and PacBio explore how technology, collaboration, and policy reform can bring accurate genomic diagnosis

  • February 27, 2026

  • 8 min

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