Genetics

Genetic test can diagnose certain immune system disorders

Primary immunodeficiency disorders (PID) can result in chronic and sometimes life-threatening infections. More than 450 PIDs have been described, but timely and accurate diagnoses remain a challenge. In a new study in The ...

Genetics

A subtle genetic change gives new clues about epilepsy

Sometimes, even the alteration of a single nucleotide in a gene can cause serious disease. In a young boy with epilepsy, this kind of mutation has not just affected the functioning of the protein in question—it could also ...