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…
Imagine this. A child misses developmental milestones. First comes reassurance- “Every child grows differently.” Then come the referrals. Pediatrician. Neurologist. Metabolic specialist. Geneticist. Blood tests. MRIs. Muscle biopsies. Hospital admissions. Months turn into years. And still, the answer remains: “We don’t know.” This is what medicine calls the Diagnostic Odyssey;…
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…
Modern medicine already uses screening to catch problems early. Newborns are tested for serious genetic conditions, adults have their blood pressure and cholesterol checked, and women have Pap smears to detect cervical cancer. These programs work because they identify risks before symptoms appear, when treatment is most effective. Now, scientists…
Why do some people live to 100 while others die decades earlier? Most of us have heard the same explanation for years: eat well, exercise, avoid smoking, get lucky. Lifestyle, environment, and chance were thought to do most of the work. A new study led by molecular biologist Uri Alon…
Genetic testing has quickly moved from being something only used in hospitals for rare diseases to something many people now consider as part of routine health planning. You may have heard friends talk about “getting their DNA tested” or seen news about genetics helping doctors detect disease earlier or choose…
