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 today in Nature Biotechnology.