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UMMS researchers develop new technology to screen and analyze genetic mutations
Date:4/7/2011

WORCESTER, Mass. A single change to even one of the thousands of DNA codes that make up each gene in the human genome can result in severe diseases such as cancer, cystic fibrosis, muscular dystrophy or Huntington's Disease. A similarly minor change in the DNA of a virus or bacteria can give rise to drug resistant strains that are difficult for physicians to treat with standard drug therapies. For these reasons, scientists have long sought ways to study the effects genetic mutations can have on an organism but have been hampered in these efforts by an inability to easily and efficiently produce and analyze the thousands of potential changes possible in even one small gene.

A new study by scientists at the University of Massachusetts Medical School, published in Early Edition of the Proceedings of the National Academy of Sciences online on April 4, describes a novel technique to produce all potential individual mutations and using deep sequencing technology simultaneously analyze each change's impact on the cell.

"In nature, genetic mutations actually occur infrequently and at random," said Daniel N. A. Bolon, PhD, assistant professor of biochemistry & molecular pharmacology and lead author of the PNAS study. "But these small changes have profound consequences on an organism's ability to survive. We've developed an approach that allows us to generate all the possible individual changes and, at the same time in the same test tube, study the impact of each change."

Using sequencing technology inspired by the human genome project, Bolon and colleagues have developed a method called EMPIRIC to analyze hundreds of different mutations in a single test tube. Ordinarily used to read a DNA sequence over an entire genome, Bolon utilizes the ability of this band-aid-sized sequencing chip to accurately count and record the abundance of hundreds of distinct cells in a test tube that differ by individual mutations. At its most simple, mut
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Contact: Jim Fessenden
james.fessenden@umassmed.edu
508-856-2000
University of Massachusetts Medical School
Source:Eurekalert

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