Almost every common and complex disease has a genetic basis. In other words, complex diseases are defined as diseases that are ultimately determined by a number of genetic and environmental factors. Therefore, identification of the genes is a prerequisite to understanding the biological basis of the disease. In my lab, we primarily focus on identifying and studying genes associated with lupus—an autoimmune disease in which the body’s immune system attacks the body’s own cells.
Lupus is a complex disease, so there are many combinations of genes and environmental factors that can cause it. In our genome, we have about 25,000 genes. By finding out what genes contribute to the disease, we can better understand how lupus starts. One way we do that is called “gene-mapping.” We take DNA samples from a large group of patients with lupus and compare them to DNA samples of people without lupus. Then we try to pinpoint DNA variations that show us which genetic difference are related to the disease. The statistical analyses are vital and necessary components of any gene-mapping effort.
A few years ago, this kind of work would have been impossible, because the technology to study the DNA variations efficiently did not exist. In each individual, we have to work with millions of data-points to draw a meaningful conclusion. It is still not easy, but now we have several analytical methods and computational techniques, along with faster and sophisticated machines, to help us do it.
The goal of all of this is to find the genes responsible for causing diseases and learn what they do. Then we can work on new ways to treat disease.
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