Family-Based Whole-Genome Sequencing Reveals Candidates for Mendelian Disease
Roach, Glusman et al., Science
Researchers at the Institute for Systems Biology and Complete Genomics have identified candidate disease-causing genes for Miller syndrome and ciliary dyskinesia, both Mendelian disorders. They sequenced the genomes of a family of four, allowing them to determine recombination sites with precision (at 99.999 percent accuracy) and identify rare single-nucleotide polymorphisms. "Our results demonstrate the unique value of complete genome sequencing in families," the authors write.
Just Block This Right Here, Thanks
December 04, 2009
A hepatitis C drug from Santaris targeting a microRNA is now in the early stages of clinical testing, reports Technology Review. The drug, a synthetic nucleic acid, binds miR-122, which the hepatitis C virus needs to reproduce. "Whereas other chemistries invented in the last 20 years as a means to improve the [binding] properties of oligonucleotides [short strands of RNA or DNA] provide one degree of improved binding, locked nucleic acids provide five-fold to ten-fold improvement," Santaris's vice president and chief scientific officer, Henrik Orum, says. "It's really a quantum leap in affinity."
