Beyond Batten Disease Foundation (BBDF) partnered with the New York Stem Cell Foundation (NYSCF) to create the largest and first genetically diverse collection of induced pluripotent stem (iPS) cells in juvenile Batten disease. IPS cells are produced by artificially “turning back the clock” of skin cells to a time when they were stem cell-like and capable of becoming any cell in the body. With a pharmaceutical nudge, the embryonic cells will be pushed to become, not the skin cells they once were, but brain cells. In other words, iPS cells will give researchers the first opportunity to watch juvenile Batten disease develop directly in brain cells. Thus far, efforts to study juvenile Batten disease have been done using rodent models or human skin cells; neither of which accurately recapitulate the disease in the brain leaving researchers without proper tools to study the disease or a solid platform for testing drugs that will prevent, halt, or reverse its progression.
At the Batten Disease Support and Research Association (BDSRA) Family Conference on July 24-27, 2014, BBDF began the process by collecting skin biopsy from affected children and their parents.