How Bizarre Genetics

The upside of a demolished chromosome

A lucky woman lost the mutated gene that had caused her rare genetic disease

shattered chromosome

DESTRUCTIVE HEALING   A chromosome that shattered and reassembled — usually a calamitous event — actually healed a woman’s inherited disease.

© EMBL/P. Riedinge

By Tina Hesman Saey

- More than 2 years ago

A shattered chromosome cured a woman of a rare genetic disease. The woman had been diagnosed as a child with WHIM syndrome, an immune disease caused by a mutation in a gene called CXCR4.