18 May 2005
A patient support group for a rare genetic disorder, pseudoxanthoma elasticum (PXE), has secured patent rights for the gene involved in the disease. PXE, which is thought to affect as many as 1 in 25,000 people, causes calcium to accumulate in connective tissue, causing symptoms that include loss of vision, gastrointestinal bleeding and heart disease. The US Patent and Trademark Office has recognized five co-inventors on a patent for the recently discovered MRP6 (also known as ABCC6) gene, four researchers from the University of Hawaii and the head of the patient support group PXE International, Sharon Terry, who has two children affected by the disorder. This is the first time a non-scientific member of a patient advocacy group has been recognized as a co-inventor on a gene patent, although Ms Terry did in fact work in the laboratory as well as recruiting affected families for research into the genetic cause of the disease. With the consent of the patent holders, the University of Hawaii has granted the lead role in patent prosecution and licensing to PXE International. The patent application on the gene was filed to attempt to ensure that access to any resulting genetic tests would be affordable and widely available (see press release).
Francis Collins, director of the US National Human Genome Research Institute, said that PXE International's involvement in the discovery and exploitation of the gene was