A patient support group has been awarded a landmark patent, on the gene involved in the disorder pseudoxanthoma elasticum (PXE). The US Patent and Trademark Office has recognised the head of PXE International, Sharon Terry, as one of five co-inventors on a patent issued on 24 August. Terry, who has two children affected by PXE, helped researchers at the University of Hawaii to isolate the gene, by assisting in the laboratory and recruiting affected families to take part in the study. The four scientists have assigned their rights to the University of Hawaii, which in turn has granted the lead role in patent prosecution and licensing to PXE International.
PXE leads to a build-up of calcium in certain types of cell, which can cause loss of vision, gastrointestinal bleeding and heart disease. Terry and the Hawaiian researchers, lead by Charles Boyd, published their discovery of the PXE gene in 2000. The group then filed a patent application on the gene because, said Terry at the time, PXE International wanted to ensure that licences for any resulting genetic tests would be inexpensive and widely available.
Such diagnostic tests have proved to be complex, since six different gene mutations account for just 45 per cent of patients. Because of this, Terry now isn't sure how much a diagnostic test will cost, but it could be up to $3000, in cases where it is necessary to search through the whole gene looking for the mutation responsible. But, she told Science, it is comforting to know that PXE International is now 'driving the boat'. The support group has out-licensed diagnostic rights to the US biotech firm Transgenomic, which is aiming to develop a diagnostic genetic test kit for PXE.
Francis Collins, director of the US National Human Genome Research Institute, called PXE International's involvement in the gene discovery 'a wonderful example of how parents and lay organisations can play a catalytic role in research on rare diseases'. Kathy Hudson, director of the Genetics and Public Policy Center and a PXE International board member said: 'Normally people patent 'inventions' to reap huge financial benefits. Pat and Sharon Terry are motivated by a far more powerful emotion, love for their children'.
Sources and References
Nonprofit gets gene patent for rare disease
US patent office issues first gene patent to patient advocacy group; co-inventors include non-scientist