August 29, 2016

WE ARE ALL DESIGNIST NOW:

The Genetics of Type 2 Diabetes Is a Mess : A recent study shows why genetic advances in medicine are so challenging. (Michael White, 8/29/16, Pacific Standard)

After more than a decade of large, high-tech studies, the genetic basis of diabetes remains, for the most part, unexplained.

Type 2 diabetes is one of the major diseases that biomedical scientists hope to conquer with genomics. It's one of our most common diseases -- the Centers for Disease Control and Prevention estimates that nearly 10 percent of all Americans have it. Diabetes is also expensive: It accounts for an estimated $176 billion in medical costs each year. And while most of us have the impression that diabetes is something you prevent with a healthy diet and exercise, the disease also has a strong genetic component.

By understanding the genetics of diabetes, we hope to combat the disease in three big ways. First, we'll be able to identify people with a high genetic risk, and make them the focus of prevention efforts. Second, we might recognize and specifically treat different molecular forms of the disease -- different people likely have different underlying genetic mutations, which means that not all diabetics respond the same way to a one-size-fits-all therapy. And third, genetics will help us understand the disease's molecular underpinnings, and guide us toward better treatments that directly target those molecules. If we achieved all three goals, we would indeed revolutionize the treatment of diabetes.

And so, for the past decade, researchers have conducted large genetic studies, involving at first thousands, and now tens of thousands of diabetics. The results have been somewhat disappointing: Though researchers have linked dozens of mutations with diabetes, we're clearly still missing much of the picture. Known mutations account for only 10 percent of the estimated genetic contribution to the disease. After more than a decade of large, high-tech studies, the genetic basis of diabetes remains, for the most part, unexplained.

To find the missing mutations in diabetes, scientists of two large international research consortia performed a deeper DNA analysis of a large set of study subjects. Earlier studies used a lower-cost, coarse-grained scan of the subjects' DNA. These scans only had the power to detect mutations that are relatively common in the population. In this most recent study, the researchers decided to survey the subjects' genomes much more comprehensively.

The hypothesis behind this approach is that diabetes is a bit like Leo Tolstoy's famous claim about unhappy families: Each case of diabetes is affected by genetics in its own way. 

Close.  But, rather, each diabetic is affected by his family in its own way.

Posted by at August 29, 2016 1:18 PM

  

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