Genetherapy

Story Summary: The study, Exome sequencing identifies the cause of a mendelian disorder, was led by University of Washington (UW) researchers and published Nov. 13 in Nature Genetics. One of the reasons that this strategy is so powerful is that the scientists need only use a small number of unrelated cases to find the gene, said the other senior author of the study, Dr. Jay Shendure, UW assistant professor of genome sciences. People with this syndrome have a number of malformations affecting their mouths, eyelids, ears, and feet. Once we discover the causative gene, she added, we can begin to look at how the gene might lead to the development of disease and what factors predict the outcome. After scientists identify one causative gene and its repercussions, by extension they might discover other genes or environmental agents that affect the same biological pathway. 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. The exome sequencing strategy may also prove useful in studies of common disorders with complex genetics. Other authors include co-first author Kati J. Buckingham, from the UW Department of Pediatrics; Choli Lee, UW Department of Genome Sciences; Abigail W. Bigham, UW Department of Pediatrics; Holly K. Tabor, UW Department of Pediatrics and the Treuman Center for Pediatric Bioethics at Seattle Childrens; Karin M. Dent and Chad D. Huff from the University of Utah departments of pediatrics and human genetics, respectively; Paul T. Shannon of the Institute of Systems Biology in Seattle; Ethylin Wang Jabs of the Department of Genetics and Genome Sciences at Mount Sinai School of Medicine and the Department of Pediatrics at Johns Hopkins University, and Deborah Nickerson from the UW Department of Genome Sciences. The research was funded by grants from the Eunice Kennedy Shriver National Institute of Child Health and Health and Human Development, the National Human Genome Research Institute, and the Heart, Lung, and Blood Institute, all at the National Institutes of Health; the state of Washington Life Sciences Discovery Fund and the Washington Research Foundation….Read the Full Story

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