Complex disease genetics
Polygenic scores in clinic: prediction requires calibration and context
A high percentile is not an absolute risk, and strong association does not establish that using a score improves care.
Year: 2026
Inheritance
Penetrance and expressivity: why a genetic finding cannot tell the whole future
The same genetic condition can affect people differently. Penetrance and expressivity help explain what a genetic result can—and cannot—predict.
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.
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.