Sunday, June 30, 2019

Massive Sequencing Study Links Rare DNA Alterations to Type II Diabetes

Scientists identify new genetic targets for disease research potentially drug development

      Thousands of scientists worldwide have analyzed protein-coding genes linking rare DNA alterations to Type II diabetes.  From this large set of data, scientists have identified four genes with extremely rare variations in the genetic code that affect the risk of diabetes. With these genes identified, scientists and researches are hoping to find hundreds, if not thousands of more genes that may be connected to other risky diseases and syndromes. This "mapping of mutations" could possibly change the way researchers and scientists diagnose and treat diseases.

     The research conducted analyzed 46,000 different individuals from all different ethnic and cultural backgrounds. The group consisted of 21,000 individuals with type II diabetes and 25,000 healthy individuals as control.

The researchers and scientists who conducted this study performed it correctly. Instead of using participants from strictly central Europe, the scientists pulled from a variety of different parts of the globe. "These results demonstrate the importance of studying large samples of individuals from a wide range of ancestries," said senior study author Michael Boehnke, professor of biostatistics and director of the Center for Statistical Genetics at the University of Michigan School of Public Health.

"It's critical to remember that just because we are examining variants in protein-coding DNA, we don't get a break on the number of samples needed to detect a significant effect," says Jose Florez , chief of the endocrine division and diabetes unit at Massachusetts General Hospital, a professor of medicine at Harvard Medical School, and director of the diabetes research group at the Broad Institute.
By finding these variants in genes, drug developers and scientist can use this valuable information to help find a cure for diabetes. Diabetes is estimated to be the seventh leading cause of death globally.

I believe that mapping the variants in protein-coding DNA is the next and hopefully final step to curing diabetes and other diseases. By finding how these proteins interact with drugs, treatments, and ultimately our own immune system, this disease, and others like it can be cured. I appreciated how Boehnke used a diverse and appropriate sample size for his study, and how he paid attention to the cultures and ethnicities from which he surveyed.Image result for diabetes


  1. Hi Matt! This article is interesting to me because I know some people affected by Type II Diabetes. Like you mentioned, I appreciate how the researcher used a large group to study. I wonder how much effect DNA alterations have on Type II Diabetes compared to nutrition. If early on, or mild enough, this disease can be reversed by healthy eating habits and exercise. I think it would be incredibly interesting to study the DNA variations before and after treatment where successful.

  2. Diabetes is a growing disease all around the world, and I love that the researchers used a large group with different cultural backgrounds for this study as it allows for a better understanding of type 2 diabetes. Knowing that the disease can be linked to a gene alteration allows for better and more effective treatment in the future and maybe even be able to eliminate it completely.