Rare diseases: models and research questions

No single mechanism

Rare diseases include molecularly distinct conditions. Start with the alteration being investigated, not rarity alone. A peptide appearing in a review is not thereby relevant to every rare condition.

From mechanism to model

Define which function the model represents and which aspects it does not reproduce. Ask whether the endpoint measures the alteration of interest or only an indirect marker. Cell lineage, genotype and cellular context may be crucial to interpretation.

Comparators and limitations

Record controls, replication and model-selection criteria. Human studies with small populations need a clear account of design and uncertainty. Population size does not justify omitting evaluation requirements.

Further investigation

Use the review to locate a specific compound and condition, then check the primary study and relevant official records. Regulatory designation, mechanistic hypothesis and demonstrated benefit are not the same kind of evidence.

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