Until now, medical scientists were searching for the cause of the disease in a cluster of factors, none of which produced particularly promising results. Previous studies have searched for shared genetic sequences among patients and how the drugs prescribed for the disease work with brain cells. The cause has remained elusive but recently developed high-resolution technology capable of scanning the complete DNA map has revealed some very rare genetic variations common in schizophrenics that have been heretofore undetectable.

The discovery, considered a paradigm shift by colleagues, is the result of a combined study involving researchers at the National Institute of Health, Cold Spring Harbor Laboratory, and the University of Washington in Seattle. Researchers scanned blood samples from 150 schizophrenics and a control group of 268 samples from people who do not have the disease.

53 mutations in the DNA sequence were detected. These mutations were found to occur in 15% of people with schizophrenia and 5% in those not affected by the disease. The disease usually becomes apparent in adulthood but a very rare form sometimes develops during childhood. When the blood samples of people with this rare childhood form of the disease were analyzed, a rare mutation known to alter genetic function was four times more likely to occur. Heredity plays a role in some of the mutations identified but others spontaneously occur at or shortly after conception.