Rare PeopleRare People

Research

We fund screening technologies, multi-modal AI for variant discovery, and accessible diagnostics.

DESSH

Selected materials and summaries to support clinicians and families.

  • 📄 Family guide (PDF)

    Overview of features, care pathways, and everyday strategies.

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  • 🔬 Research in the UK (PDF)

    Current UK research context, contacts, and participation opportunities.

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