The Beyond Batten Disease Foundation has received some significant press coverage that we wanted to share with you. Our efforts to prevent Batten Disease through the creation of a comprehensive carrier screening test have resulted in a major scientific publication by our partners at the National Center for Genome Resources. The study used next-generation sequencing technology to examine blood samples from over 100 subjects. The researchers found that the average person carries the gene mutations that lead to three of the 448 diseases included in the test! The study also validated the technology that we are using to develop the test. Now that this significant hurdle has been crossed, we are working to bring the test to market later this year. The scientific paper was published in Science Translational Medicine on January 12 and was picked up by news outlets around the world. For example, the Austin American-Statesman featured the story on its front page and you can read it HERE. An abstract of the journal article can be found here. This test ultimately will spare many families from the suffering caused by devastating genetic diseases like Batten Disease. We are deeply grateful to all of our donors and supporters for making this work possible! |
