The intricate mechanisms behind genetic disorders are reshaping how we understand human disease. Inborn errors of immunity (IEIs), a group of monogenic disorders, exemplify this complexity. These ...

Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people ...

More than 4 in 10 participants received a rare disease diagnosis as a result of the analysis. A new analysis of children with difficult-to-diagnose genetic disorders shows that a genome-driven ...