In a recent study, a Yale-led research team described for the first time a rare neurodevelopmental syndrome that begins affecting patients during infancy and typically causes developmental delays, severe seizures, cardiac dysrhythmia, and recurring infection. After conducting a genetic analysis on 18 individuals with similar symptoms—but for whom there was no established diagnosis—and comparing the results with other findings, the research team, led by Yale’s Saquib Lakhani and Lauren Jeffries, was able to discern the genetic roots of what they determined was a syndrome shared by all of the patients. Read More