The gene for Gorlin Syndrome was isolated in 1996 simultaneously in Australia and the U.S.A. This was no mean task. Firstly chromosome 9 was found to contain the faulty gene in 1993, using information and data from families in the North West of England, Germany and the USA. 

When the gene was discovered, it was realised that it is a very important gene, not only in suppressing cell growth, but in development. Much was known about the action of the gene patched in the fruit fly (Drosophila) and this has helped researchers to know more about the Gorlin Syndrome gene.

The gene patched in the fruit fly is important in segmentation of the body. If the gene is faulty, abnormal segmentation occurs. This relates to development in humans with Gorlin syndrome. Faulty segmentation leads to bifid ribs, problems with vertebra etc. ‘Patched’ also has an important role in suppressing cell growth, relating to the skin and jaw problems in Gorlin syndrome.