Clinical research
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.
Articles by Medical Genetics editorial team
Gene & cell therapies
Gene therapy evidence: distinguish early response from durable benefit
A one-time administration still requires long-term evidence about effectiveness, late adverse events and who remains represented in follow-up.
Research ethics & data
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.
Complex disease genetics
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 discovery
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.
Variant interpretation
ClinVar discordance: investigate the assertions behind the summary
Conflicting classifications are a prompt to inspect evidence, scope and dates rather than count votes.
Population genetics
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.
Genomic testing
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.
Genomic testing
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.
Rare disease diagnosis
Genomic imprinting: why parental origin changes the diagnostic question
Imprinting disorders require attention to gene activity and parental origin as well as DNA sequence. Chromosome 15 illustrates the implications for testing and recurrence counselling.