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.