Institute for Systems Biology






			ISB Approach a Game-changer in Genetic Health Research Try comparing four separate but nearly identical sets of encyclopedias, each of which has 3 billion characters. Somewhere in the thousands of pages, minor printing or editing mistakes may appear in one or two of the sets, but not in all four. Your job is to look at every letter, number, picture and blank space in each set, compare them with each other, and find the errors. Now try conducting the search with molecules that are so small they can't be seen and then making the connection between identified errors and human health conditions. Welcome to ISB! Researchers at ISB have, for the first time, sequenced and compared the complete genomes of a family of four (a mother, father and two children) in an effort to identify genetic mutations responsible for triggering disease. The findings of this approach, funded through a partnership between ISB and the University of Luxembourg, were published in Science on April 30. "We all know that children are different 'mixtures' of their parents, and this was the first time we could actually visualize the relationships between siblings genome-wide," said Gustavo Glusman, PhD, an ISB senior scientist and one of four principal authors of the paper. "Parts of their genomes are like those of identical twins, parts are like those of total strangers, and the rest are in an intermediate state. All this was laid out in front of us by whole-genome sequencing." ISB partnered with Complete Genomics, based in Mountain View, CA, to sequence the genomes. Both children had two recessive genetic disorders, Miller syndrome, a rare craniofacial disorder, and primary ciliary dyskinesia, a lung disease. By sequencing the entire family, including the parents, researchers were able to reduce the number of candidate genes associated with Miller syndrome to four, and then identify a specific gene responsible for the disease. "We were very pleased and a little surprised at how much additional information can come from examining the full genomes of the same family," said David Galas, PhD, a corresponding author on the paper, an ISB faculty member and ISB's senior vice president of Strategic Partnerships. "Comparing the sequences of unrelated individuals is useful, but for a family the results are more accurate. We can now see all the genetic variations, including rare ones, and can construct the inheritance of every piece of the chromosomes, which is critical to understanding the traits important to health and disease." Improvements in technology and significant declines in cost made the continue on page 2 >>>

In this issue
RESEARCH.....................................................2
	The Next-Generation Protein Hunter
	The Genomic Dream Team
EDUCATION....................................................5
	CIS Partners with Districts to Improve Science Education
COMMUNITY INVOLVEMENT......................5
	ISB Receives $6 Million Gift from California Donor
RECOGNITION.................................................7
	David Sabey Joins the ISB Board of Directors
EVENTS............................................................8
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BIOS Editor: Todd Langton email: tlangton@systemsbiology.org BIOS Production and Design: Christine Emswiler email: cemswiler@systemsbiology.org Visit our website: http://www.systemsbiology.org Follow us on Facebook: http://www.facebook.com/systemsbiology





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