Genetic Map Developed Linking Complex Diseases

Paul Austi

University of Chicago Medical Center. "Genetic map developed linking complex diseases." ScienceDaily, 26 Sep. 2013. Web. 29 Sep. 2013.

The article “Genetic Map Developed Linking Complex Diseases” discusses a breakthrough in the study of genetic causes of complex diseases and how these diseases can be related to one another. Although heavily studied in the science world, the specific genetic causes of “complex diseases” are largely unknown due to byzantine genetic and environmental interactions. Some examples that fall into the category of “complex diseases” are diabetes, autism, and heart disease. However, recently at the University of Chicago, a group of scientists have created one of the most expansive analyses of the genetic factors in complex diseases. They were able to do this by using diseases with known genetic causes to guide them. The finishing project was a unique genetic map that has the potential to guide researchers in diagnosing, identifying risk factors, and someday maybe even developing therapies against complex diseases. The map was made possible by analyzing more than 120 million patient records and identifying trends of co-occurrence among hundreds of diseases. The work was published in Cell, on September 26. For the first time, the group discovered that almost every complex disease has a unique set of associations with single-gene diseases. This allowed for the group to find “barcodes” of specific gene loci, which would be used to untangle the complex genetics of complex diseases. The team uncovered 2,909 statistically significant associations, as well as corresponding levels of relative risk between every disease pair. They looked for trends in comorbidity, they studied these correlations in 65 complex diseases affecting almost every system in the body, including arthritis, and depression.

Some of the pairs were well known, however a majority of the comorbidities were previously unknown. For example, Fragile X syndrome, an intellectual disability disorder, has significant associations with asthma, viral infection, showing a potential immune system dysfunction in these patients. The team discovered that genetic insults underlying these Mendelian diseases don’t appear to independently contribute to complex diseases but interact in a combinatorial way to ultimately cause the disorders. This map is a huge breakthrough in the study of complex diseases. It cannot only have a huge impact in my society of Bronxville, but the whole world. This genetic map can immediately be useful for geneticists as a gauge to the level of risk developing complex disease among patients with Mendelian diseases. It also gives scientists a wealth of new data and a unique approach by which to better understand and develop therapeutics against complex diseases. The team hopes to expand their study even further so that their map will cover even more diseases and a larger population data.

            Overall I thought this article was very interesting and well written. It had direct quotes from the team at the University of Chicago indicating their intentions, which made the article very easy to understand. Also, the article was written in a very positive outlook on a topic that is usually negative, which made reading the article that much better.