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Over the past few decades, researchers have spent a lot of time discovering the genetic roots of a number of conditions. Some of these diseases, such as Huntington’s, sickle cell, and cystic fibrosis, are controlled by a single gene. These are called Mendelian diseases. If a patient has a certain mutation on that one gene, it’s always been considered a guarantee that he will have the disease in question, and though treatment can often lengthen a patient’s lifespan, it can’t cure the disease.
In a new study, researchers discovered a handful of individuals who had the mutation but didn’t display signs of the disease. Understanding what makes them different might help researchers better treat or even prevent these conditions. The researchers published their study in Nature Biotechnology.
In the study, the researchers analyzed the genetic data from 589,306 patients from all over the world (about 68 percent of those records were supplied by personal genomics company 23andMe). They looked at 874 genes to look for 584 Mendelian conditions that set in during a patient’s childhood, and compared that data to information about the patient’s health. Out of these half a million patients, the researchers discovered 13 individuals that contained a mutation that would typically indicate a Mendelian disorder, but didn’t show any signs of disease.
Understanding what makes those individuals different might lead to better treatments or even a cure.
Read full, original post: Scientists detect which patients are resistant to genetic diseases