New proteins from old diseases provide novel insights in cell biology.

The lysosomal disease concept was developed by Hers in 1963. At the time, few could have imagined the breadth and depth of knowledge about cell biology that these disorders would reveal. With a collective hindsight of nearly four decades, it is fair to say that we have learned more about the lysosomal system of cells through the study of these rare diseases than by any other means. Given the advancements of the past year, it is apparent that some of the most significant insights are yet to come, as we delineate the last remaining and most enigmatic of these diseases.