Researchers identify genetic variations that cause rare, deadly illness

Many illnesses are caused by genetic variants; worse, the genetic origin of the majority of ailments is unknown. Researchers have shed light on the specific variations responsible for an uncommon and deadly condition known as 'RAD50 deficiency/Nijmegen breakage syndrome-like disorder' in a study published recently in the Journal of Clinical Immunology. RAD50, along with MRE11 and NBN, is one of three proteins that make up the 'MRN complex,' which recognises DNA breaks and helps to initiate DNA repair.