The concept of a “library” is something we probably take for granted—but at its core, the library is one of humanity’s greatest innovations.
The act of collecting information for the express purpose of sharing and disseminating it has probably led to more acts of creation and discovery than we can ever count. It’s also probably led to collecting enough overdue book fees to fund a few dozen missions to Mars! But, in order to remain relevant, libraries have to move with the times and preserve information in every possible medium. Sometimes, that means getting small… very, very small.
Dr. Satoshi Okada and a team of researchers at Hiroshima University in Japan recently created a library that is small in size but mighty in potential: a “smart” genetic reference library that stores every possible mutation of the STAT1 gene.
This gene plays an important role in determining the body’s immune response. While these mutations are often harmless, some can lead to regular fungal infections, lowered immunity to bacterial infections, and any combination of potentially lethal disorders. Predicting which—if any—disorder an individual with a STAT1 gene mutation might develop can charitably be described as a crapshoot.
Dr. Okada and his team have removed some of the guesswork by creating a technique for estimating the disease potential of different mutations. The technique relies on measuring and cataloging the immunity activity levels in the nucleus of cells impacted by different STAT1 mutations.
The team compared their research to the (little) known data about STAT1 mutations collected around the world to help verify its accuracy. And, even more exciting, they were able to use it to accurately predict the effect of two newly discovered STAT1 mutations.
What this all boils down to is a comprehensive genetic resource library for every possible mutation to the STAT1 gene. The hope is that this library will be an invaluable resource to help doctors and researchers predict disease outcome and treat patients quickly—something critical when time is of the essence.
If this comes to fruition, Dr. Okada and friends hope their library can be expanded beyond STAT1 to include both additional genes and genome sequencing tech. This genetic “super library” of the future may not only assist in diagnosing existing problems, it may also help tackle some of the greatest unsolved genetic mysteries.
While you and I may not be able to stroll up to this library and get a library card, we’ll definitely reap the benefits of its shared knowledge. And we won’t even have to worry about late fees!
