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;…
