Genetics of scoliosis

Genetics of Scoliosis 

What is Scoliosis? 

Scoliosis is a medical condition where a person’s spine has a sideways curve. Instead of being straight, the spine might look like an “S” or a “C”. This curve can be small, large, or somewhere in between. Often, scoliosis starts to show up when kids are growing fast during their pre-teen years. Some people might have to wear a brace to help straighten their spine, and in severe cases, they might need surgery. But many people with scoliosis can lead normal, active lives.

How was the research done? 

Researchers identified genes that might be linked to idiopathic scoliosis. Idiopathic scoliosis is when a person’s spine curves for no known reason. They will use a method called exome sequencing to study the DNA of patients from the BioVU repository. They will compare the DNA of these patients to people who already have idiopathic scoliosis and people who do not. By doing this, they hope to find new genes that might be causing scoliosis. With the same DNA data, they will look for rare changes where there are too many or too few copies of a gene in patients with idiopathic scoliosis. By studying more DNA samples from BioVU, they hope to find more of these changes and other types of genetic variations linked to idiopathic scoliosis.

What is the significance of the research? 

Studying scoliosis is very important for several reasons. First, it helps doctors and scientists understand why some people get scoliosis and others don’t. Second, studying scoliosis can help create better treatments. If researchers are able to learn more about scoliosis, they might be able to come up with new treatments that are more effective or easier for patients.