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Fast-track gene-ID method speeds rare disease search
Date:9/16/2010

ANN ARBOR, Mich. A University of Michigan-led research team has identified a gene responsible in some families for a devastating inherited kidney disorder, thanks to a new, faster method of genetic analysis not available even two years ago. The success offers hope that scientists can speed the painstaking search for the genes responsible for many rare diseases and test drugs to treat them.

The U-M scientists report their success with exome capture, a groundbreaking genetic analysis technique, in the September issue of Nature Genetics.

The U-M- led international research team collaborated with two companies to test the emerging technology's ability to isolate the culprit gene in families with inherited single-gene kidney diseases. Many rare diseases that strike children and young adults result when a single gene malfunctions.

"We are one of the first research teams to take this technology and move it forward to identify single genes," says senior author Friedhelm Hildebrandt, M.D., a Howard Hughes Medical Institute Investigator, a Doris Duke Distinguished Clinical

Scientist and Frederick G. L. Huetwell Professor for the Cure and Prevention of Birth Defects at U-M.

"For us, it's a big leap in what genetics can do," Hildebrandt says. "In five years, families may be asked, 'Do you want to look at the cause of your rare disease?' In the not-too-distant future, we may be able to enroll them in a drug study."

Hildebrandt is an internationally known expert on the genetic basis of several severe kidney diseases that cause early renal failure in infants and children. He is also a professor in the U-M departments of human genetics and pediatrics and communicable diseases.

Hildebrandt and colleagues combined exome capture with a method of ultra-fast data analysis called massively parallel processing to identify a new gene involved in a family of congenital cystic kidney diseases known as nephronophthi
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Contact: Anne Rueter
arueter@umich.edu
734-764-2220
University of Michigan Health System
Source:Eurekalert

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