LA JOLLA, CA October 25, 2012 Explosive advancement in human genome sequencing opens new possibilities for identifying the genetic roots of certain diseases and finding cures. However, so many variations among individual genomes exist that identifying mutations responsible for a specific disease has in many cases proven an insurmountable challenge. But now a new study by scientists at The Scripps Research Institute (TSRI), Scripps Health, and Scripps Translational Science Institute (STSI) reveals that by comparing the genomes of diseased patients with the genomes of people with sufficiently similar ancestries could dramatically simplify searches for harmful mutations, opening new treatment possibilities.
The work, reported recently in the journal Frontiers in Genetics: Applied Genetic Epidemiology, should speed the search for the causes of many diseases and provide critical guidance to the genomics field for maximizing the potential benefits of growing genome databases.
Much work is already under way to sequence the DNA of people suffering from diseases with unknown causes, called idiopathic conditions, to find the roots of their problems. Unlike more complex conditions such as diabetes, in some cases a limited number of genetic defects, or even a single mutation, can cause an idiopathic disease. Identifying those critical mutations can lead to effective treatments for previously mysterious problems.
While there have been some successes, in many other instances the genetic basis of an idiopathic disease remains elusive. Among other groups, The National Human Genome Research Institute runs searches for idiopathic disease sufferers and is able to find offending gene sequences only about 30 percent of the time. "One explanation for that other 70 percent might be that the diseases are enormously complex," said the new study's senior author Nicholas Schork, a professor at TSRI, director of r
|Contact: Mika Ono|
Scripps Research Institute