“Orphan diseases” are a medical paradox: by definition, each affects only a small portion of a population, but taken together, one out of every twelve people is afflicted by one. The problem posed by these rare illnesses is not insignificant, and it is only magnified by the paucity of research aimed at discovering cures—the diseases have been “orphaned” by large pharmaceutical companies, which tend to direct their efforts at diseases that affect a broader swath of the populace. It’s a situation that the scientists at Perlara in San Francisco are seeking to address, and they’re applying a series of novel techniques to do so.

They’ve elected to begin with a group of 50 genetic diseases called Lysosomal Storage Diseases, a category that includes Tay-Sachs and Niemann-Pick types A-C. These diseases are caused by defects in the enzymes that process waste materials in cells, defects that are themselves caused by any number of combinations of mutated genes inherited from one’s parents. Kiran Singh, a researcher at Perlstein Lab, explained to us how he and his colleagues are going about studying the genetics behind the illnesses:

“We’re also doing something a bit out of the norm in that we’re using a set of model organisms to try and find a potential drug candidate. A lot of people don’t fully appreciate the significant amount of sequence homology of genes in other eukaryotes. By creating certain mutations in these organisms we’re able to model the corresponding human disease and try to find a potential drug/lead candidate.”

And to do that, they’re using Temboo’s Google Spreadsheets, Gmail, and Nexmo Choreos:

“Our platform requires us to keep stocks of our organisms at very specific conditions to optimize their growth. If any of these incubators were to go down unexpectedly it could severely delay our work. Temboo gives us a way to monitor the conditions in the incubators. It also notifies us when something is broken.”

You can learn more about the research being done at the Lab, the science behind their approach, and their mission as a Public Benefit Corporation on their website.