Triumphs in Genetic Sequencing of Human Diseases

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At Queen Mary University in London, researchers have conducted the largest study of

genetic sequencing of human diseases known to date, identifying the genetic basis of six

different diseases: autoimmune thyroid disease, celiac disease, Crohn’s disease, psoriasis,

multiple sclerosis, and type 1 diabetes.

According to the study, though the exact causes of these diseases are unknown, it is believed that the diseases are a complex combination of both genetic and environmental factors. For each disease, there was only a small portion of hereditability explained by genetic variants. In past studies and experiments, most genetic variants identified were weak-effect, but commonly found in the population. For this study, global scientists used high-throughput sequencing techniques to identify new variants, along with rarer and higher risk variants. In a previous experiment that contained twenty-five risk genes, the risk genes were found in a sample 24,892 individuals with autoimmune disease and 17,019 controls.  In the May 2013 edition of the journal Nature, scientists suggested that the overall genetic risk of these diseases more than likely involves a complex combination of weak-effect variants common in the overall human population. David van Heel, Professor of Gastrointestinal Genetics at Barts and Queen Mary University, led the study and said that there is a lesser risk of autoimmune disease from a few high-risk genetic variations, than the risk of random selection from the common genetic variants that each have a weak effect.  In fewer words, you were worse off for having a myriad of common weak-effect genes that could combine in such a way to precipitate an autoimmune disease, than to have a handful of high-risk variants. Heel goes on to say that the genetic risk likely comes from inheriting a large amount of common variants from both parents. This would mean that it would be nearly impossible to test individually for such diseases. However, scientists are starting to grasp the biological basis for the conditions that cause these diseases, opening pathway for researchers to follow and hopefully lead to the development of new drugs and treatment options.




1) Queen Mary, University of London (2013, May 22). Largest genetic sequencing study of human disease. ScienceDaily. Retrieved May 23, 2013.

By Lauren Horne

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