A substantial proportion of individuals with a well-defined monogenic disorder remain without a genetic diagnosis. Low-level mosaic pathogenic variant…

An international partnership designed to improve equality in access to genomic medicine for a rare disease has now provided potentially life-saving genetic testing for over 1,100 families across the w...

Nature Reviews Endocrinology, Published online: 16 April 2026; doi:10.1038/s41574-026-01253-wInfants exposed to hypoglycaemia are at risk of neuroglycopenia and long-term neurodisability. Individuals with congenital hyperinsulinism provide a unique opportunity to gain insights into relevant biological pathways and outcomes. Such insights could transform clinical care for infants at risk of hypoglycaemia from a variety of genetic and environmental aetiologies.

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A rare variant burden analytical framework for Mendelian diseases was developed and applied to data from the 100,000 Genomes Project, identifying 69 probable new disease–gene associations.