NEW YORK (GenomeWeb News) – Athena Diagnostics, a subsidiary of Thermo Fisher Scientific, has licensed from Toronto's Centre for Addiction and Mental Health the rights to develop a test for intellectual disability based on CC2D2A gene mutations.
The test was initially developed by a CAMH researcher in collaboration with an independent researcher and will be further developed by Athena. The partners hope to have a test available to physicians for clinical use in Canada, the US, and Japan by January 2011.
According to CAMH, the test can use a small sample of either blood or saliva to identify CC2D2A gene mutations, which cause about 10 percent of cases involving a type of intellectual disability similar to and including Joubert's syndrome. It said that if both parents carry a mutated copy of the gene, Joubert's syndrome can occur in one out of four of their children.
"Our test will provide more accuracy to physicians who are trying to identify these hard-to-diagnose cases, and help them offer appropriate genetic counseling to family members who request it," John Vincent, the CAMH researcher who helped develop the test, said in a statement.
Further terms, including financial details of the agreement, were not disclosed.