How exactly do scientists find out what genes are found in causing a disease?

One of the toughest problems in genetics involves figuring out which genes cause illness and what turns those genes on or off. Researchers at the Johns Hopkins University school of Medicine and the Karolinska Institute in Sweden reported a way to evaluate a one-gene regulation system which involves chemical tags that tells genes to be active or not.



The test case in this research were patients who had rheumatoid arthritis, which is an autoimmune disease that affects 1.5 million Americans. This research involved an investigation of epigenetics, which is an area of biology that looks at modifications in genes that may determine disease risk.

The setup of this study involved 354 newly diagnosed rheumatoid arthritis patients and 337 healthy people who served as controls. The purpose of the experiment was to examine both groups' white blood cells. They research also involved examining DNA for chemical tags-methyl groups-that could attach themselves to genes to turn them on or off. These chemical tags are what make the research so difficult. The chemical tags can be affected by the environment, medications, or other distant groups.

The researchers involved sifted through hundreds of chemical tags but only four were found to be related to the disease. Those four tags control the immune response which is known to affect the risk of rheumatoid arthritis. The tags were located in a gene called C6orF10.

I found this article to be an interesting read because I never knew how geneticists went about figuring out which genes are responsible for certain illnesses. It always seemed like a difficult process and this article does nothing to change that. Hopefully, as technology advances, geneticists can pinpoint the genes involved in certain illnesses and find a way to use that information to help treat or prevent them.