Dear Readers,

Rare disease has never been an easy fit for healthcare systems built around large populations, standardised pathways, and broad treatment categories. But, that hasn’t deterred dedicated researchers. Thanks to their efforts, patients around the world have options for more effective – if not lifesaving – treatment options.

The problem is that innovation only really matters if it reaches the people it was designed to help, and many of the barriers today are no longer scientific. They are systemic, stagnating in diagnostic pathways, reimbursement decisions, workforce pressures, infrastructure gaps, and policy frameworks, to name but a few.

Encouragingly, there are signs that governments, health systems, and industry are beginning to recognise this reality. However, as this issue’s contributors illustrate, recognition is not enough to drive progress. Now, invested parties need to channel the same curiosity that drove researchers to seek out answers in rare disease research to enable today’s researchers to use those answers to benefit real-world patients.

Happy reading

Eloise McLennan
Deep Dive editor