Genetics research articles from across Nature Portfolio

Analysis of genetic modifiers of 599 developmental disorder genes in the UK Biobank found that rare variant burden within this set, as well as the common polygenic background, can alter the expressivity of cognitive and socioeconomic traits in an additive manner.

The authors conducted a systematic review to examine whether pharmacogenetic testing affects clinical or economic outcomes in patients taking antipsychotic medication.

Chronic pain is common, with more than one in five adult Americans reporting having pain daily or on most days. A multi-ancestry genomic analysis in 598,339 military veterans in the USA identifies 126 genetic variants associated with pain intensity, highlights shared genetic risk with substance use and psychiatric disorders, and reveals enrichment in GABAergic neurons as a key molecular contributor to experiencing pain.

Rare diseases remain a formidable public health challenge. The key to unlocking breakthroughs in diagnosis and treatment is fostering dynamic international partnerships and streamlined data sharing. The empowerment of patient advocacy groups is essential, as they are pivotal in driving innovative research and elevating health-care standards for these often under-represented conditions.