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.
One Step Down
November 24, 2009
IBM has developed lab-on-a-chip diagnostic tool, reports Technology Review. In the prototype, a small amount of blood flows through the chips' capillaries — as small as 30 micrometers. There, antibodies bind to disease markers in the blood, to diagnose a disease in 15 minutes, according to Emmanuel Delamarche who worked on the device at IBM Zurich Research Laboratory. Those compounds are then detected by another set of antibodies and measured with a fluoresce reader. "The next step is to develop a pilot series of maybe a thousand devices and test them on samples from hospitals," Delamarche says.
