Noncoding mutations disrupt cooperative function of 'gene families' in rare genetic disorder

Scientists say they are one step closer to understanding the genetic mechanism of a rare, complex, multiple-gene disorder called Hirschsprung’s disease. Their results suggest that many patients develop the disease when multiple mutations in gene regulatory sequences of a specific gene combine to destroy the normal cooperative function of a whole network of genes….

Scientists say they are one step closer to understanding the genetic mechanism of a rare, complex, multiple-gene disorder called Hirschsprung’s disease. Their results suggest that many patients develop the disease when multiple mutations in gene regulatory sequences of a specific gene combine to destroy the normal cooperative function of a whole network of genes….