University of Washington (UW) researchers have successfully developed a novel genome-analysis strategy for more rapid, lower cost discovery of possible gene-disease links. By saving time and lowering expenses, the approach makes it feasible for scientists to search for disease-causing genes in people with the same inherited disorder but without any family ties to each other.
The strategy also might be extended to common medical conditions with complex genetics by making it more cost-effective and efficient to study the genomes of large groups of people.
Such large-scale research hasn't been undertaken because it has been prohibitively expensive, cumbersome, and time-consuming to sequence, compare and interpret entire human genomes.
The study, published today in Nature by lead author Sarah B. Ng, a graduate student in the UW Department of Genome Sciences, was conducted as a proof-of-concept to see if a more targeted analysis and newer technology could identify candidate genes for Mendelian disorders. These are diseases like cystic fibrosis or sickle cell anemia that are caused by a mutation in a single gene and are passed along through generations in a simple inheritance pattern. In this study, the rare Mendelian disorder picked to evaluate the strategy in unrelated, affected individuals was Freeman-Sheldon syndrome.
The study's senior author is Jay Shendure, UW assistant professor of genome sciences. In addition to the Shendure lab, the UW labs of Deborah Nickerson, Genome Sciences; Michael Bamshad, Pediatrics; and Evan Eichler, Genome Sciences, played key roles in the collaborative study.
To make progress in disease genetics, new strategies such as this are vital. Shendure gave an example: "The genetics of thousands of rare diseases remains unsolved because sufficient numbers of families with individuals affected by those disorders are not easily available. Even with such families, mapping and identifyin
|Contact: Leila Gray|
University of Washington