Story Summary: Mendelian disorders, such as cystic fibrosis and sickle cell disease, are the result of one or more mutations in a single gene, typically a gene that makes a protein. All of the regions that code for proteins taken together are called the exome. Our results show that scientists could use exome sequencing to identify the genetic cause for thousands of disorders for which the gene hasnt been discovered. For example, the malformation patterns found in Miller syndrome are similar to the birth defects in fetuses of some, but not all, mothers who took the drug methotrexate during pregnancy. Knowing this might provide some clues to genetic susceptibility to birth defects from methotrexate. The ability of exome sequencing to identify a causative gene in a few months, compared to earlier methods that took years, caused an audible gasp in the audience when we presented these findings to our peers, Bamshad said. We hope that the results of this study help point the way for thousands of scientists working on rare disorders who are seeking more efficient ways to locate the causative gene, Shendure added….Read the Full Story

Related posts:

1. For the first time, scientists discover causative gene of a rare disorder by sequencing all protein-coding regions of the genome
2. Exome-Sequencing Might Help Identify Genetic Cause Of Thousands Of Disorders
3. Scientists use next-gen sequencing to rapidly discover genetic cause of devastating disorder
4. Researchers restore missing protein in rare genetic brain disorder
5. Knome Introduces Personal Genomics First Comprehensive Gene Sequencing Service