ArcticDx, a molecular diagnostic company, has licensed exclusive world-wide commercial rights to a causative mutation in the HTRA1/ARMS2 gene from Regensberg University (Germany).
Screening for the genetic variation has been incorporated into a next-generation version of Macula Risk, ArcticDx’s DNA test that is intended as a prognostic test for patients who have been diagnosed with early or intermediate Age-Related Macular Degeneration (AMD).
ArcticDx said that the Regensberg ARMS2 gene sequence includes an indel that was discovered by Dr Bernard Weber and has been published in the prestigious peer-reviewed journal, Nature Genetics.
The company also has taken an exclusive worldwide option on another new marker on the CFI gene from Tufts Medical Centre and the Massachusetts General Hospital. The CFI variant was discovered by Dr Johanna Seddon and has been published in the European Journal of Human Genetics. It supplements other complement factor-associated polymorphisms associated with AMD.
Brent Zanke, chairman and chief medical officer of ArcticDx, said: “This genetic variation affects directly the amount of ARMS2 protein in circulation and is likely a key causative genetic lesion in AMD prognosis. It improves upon previous markers that simply correlated with the presence of this devastating eye disease.
“Genetic testing for disease-causing genetic variations for AMD is a distinct improvement upon the current practice of measuring markers that likely don’t contribute to the pathological process. This truly is the future of genetic testing and we are proud to be the first to offer this approach for the benefit of patients.”