For years, scientists have searched for the genetic roots of disease by focusing on the parts of DNA that act like instruction manuals for making proteins. These regions, known as coding genes, have been the main characters in genetic research. But a new discovery is shifting that narrative and shining…
Most people around the world are infected at some point with the Epstein Barr virus, or EBV. It usually causes mild illness or no symptoms at all and then stays quietly in the body for life. Yet in a small number of people, EBV is linked to cancers such as…
Autoimmune diseases—like thyroid disease, lupus, or rheumatoid arthritis—happen when the body’s immune system mistakenly attacks itself. For years, doctors have thought this was mainly due to the immune system becoming “overactive” or poorly regulated. But this new study suggests something deeper—and more surprising—is going on. Scientists have discovered that in…
Kidney failure is a serious condition affecting millions of people worldwide, and for many, a transplant offers the best chance at a healthier life. Yet, in a surprisingly large number of cases, doctors do not know exactly why a person’s kidneys failed in the first place. This uncertainty can make…
Genetic diseases, especially rare inherited conditions, can be difficult and time-consuming to diagnose. Traditionally, doctors tested one gene at a time or used limited gene panels, often leading to long delays—sometimes called a “diagnostic odyssey.” A newer method, short-read whole genome sequencing (srWGS), reads nearly all of a person’s DNA…
Over the past 10 years, researchers and clinicians in Sweden have been working to solve a frustrating problem: many people with rare diseases never receive a clear diagnosis. This study reports how a large hospital-based genomics program has used whole genome sequencing to change that. Whole genome sequencing reads a…
Nutrigenetics is the idea that your genes can tell you what you should eat for better health. It sounds compelling—after all, we know that genes influence how our bodies process nutrients. For example, some people are genetically lactose intolerant, and others have rare conditions that require strict dietary control. These…
Researchers have identified a rare genetic variation that seems to reduce how much people smoke, offering a fresh clue in the fight against tobacco addiction. The study, published in Nature Communications, looked at nearly 38,000 smokers and found that people with certain variants of a gene called CHRNB3 tend to…
A new study looked at what people actually do after getting important health results from direct-to-consumer genetic tests—like those offered by companies such as 23andMe. The findings suggest that, for many people, these tests don’t just sit in a report. They often lead to real medical steps. Researchers surveyed more…
For many children with rare neurological conditions, the path to a diagnosis can take years. Families often go through a long series of tests—blood work, scans, and multiple genetic analyses—without finding clear answers. This journey is sometimes called the “diagnostic odyssey.” A new study from three Italian medical centers shows…
