Rare-disease trial endpoints: measure a change that matters
Small populations make endpoint selection more demanding, not less; connect measurement quality, natural history and patient relevance.
The reading room
The reviewed article library
Browse published, medically reviewed explanations. Search a gene, condition or research question, or narrow the collection by topic.
129 articles
How long does gene therapy last? Reading durability evidence
Assess long-term gene-therapy results using clinical outcomes, follow-up duration, missing data and additional treatments. Includes a reading worksheet.
Rare-disease data sharing: make data useful without treating access as unlimited
FAIR principles and responsible governance can support discovery while preserving consent, privacy and accountability.
From GWAS signal to mechanism: why the nearest gene is not the answer
Association identifies a genomic neighborhood; causal variants, target genes and biological effects require additional evidence.
Gene–disease validity: establish the association before classifying a candidate
A plausible variant cannot compensate for an uncertain relationship between the gene and the proposed disorder.
Conflicting ClinVar classifications: how to read the evidence
A practical guide to comparing ClinVar submissions, reading review stars and preparing a focused question for the reporting laboratory. Includes a fictional worked example and a six-step worksheet.
Population reference datasets: rarity, constraint and ancestry in context
Reference databases are essential for variant interpretation, but absence, group labels and gene-level constraint each require careful qualification.
What makes a genetic result clinically actionable?
Finding a DNA change is only part of the question. Clinical actionability asks whether reliable evidence supports a useful response to that finding.
Pseudogene interference: establish which DNA your assay measured
CYP21A2 illustrates how similar DNA sequences and complex gene structures challenge genetic analysis—and why research methods need locus-specific validation.