Scientists have taken a first step toward understanding how rare genetic differences among people contribute to leading chronic illnesses. One-letter DNA code changes occur frequently in human genomes, but each variant is usually found in only a few individuals. This phenomenon is consistent with the population explosion of the past 5,000 years. Studying the evolution of rare genetic variants and their health impact is critical as low cost, rapid sequencing enters clinical use.
The discovery of links between rare gene mutations and autoimmune disease could help solve one of modern medicine’s major dilemmas. Common diseases have largely resisted genomic analysis, leaving scientists unable to explain genetic... Read Post
Scientists have identified new genetic sites harboring common variations in DNA that are linked to imbalances in concentrations of blood lipids (fats). The findings provide another step forward in understanding the genetic contribut... Read Post
A study of the genetics of common diseases including diabetes, heart disease and bipolar disorder has found that commonly occurring copy number variations -- duplicated or missing chunks of DNA in our genome -- are unlikely to play ... Read Post