Medical genetics articles from across Nature Portfolio

Auvinen et al. examine genome-wide DNA methylation, imprinting, and gene expression in human placentas. Placentas from assisted reproductive technologies experience a variety of altered signaling pathways with variability based on method providing insight into subfertility.

A family tragedy revealed a hidden genetic mutation and transformed my work as a geneticist into a mission to increase awareness of the critical importance of genetic testing.

Despite extensive advancements in cancer genetics in North America and Europe, the African continent remains underrepresented in this vital research area. Here we highlight a pioneering collaborative project in Kenya, with a focus on expanding cancer genetics services and research into retinoblastoma, a prototypical heritable cancer syndrome.

Haemophilia A is caused by variants in the gene that encodes coagulation factor VIII (FVIII). Sequencing of this gene in the 1980s was the initial step in developing replacement therapy with recombinant FVIII, and thereby removing the risk of blood-borne infections from plasma-derived FVIII.

Trinucleotide repeat expansions, notably CAG repeats translated into toxic polyglutamine-containing proteins, are the leading cause of spinocerebellar ataxia (SCA). New work points to a GGC repeat expansion that encodes a polyglycine-containing protein as a cause of SCA4, highlighting polyglycine disorders as an emerging human genetic disease class.