New Gene Technique Zeroes in on Disease

ANN ARBOR, Mich., Sept. 16 (UPI) — A new technique has identified a gene responsible for an inherited kidney disorder and may speed the search for cures of other diseases, U.S. scientists say.

Researchers at the University of Michigan described their success with exome capture, a groundbreaking genetic analysis technique, in the journal Nature Genetics.


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, a UM release said Thursday.

Friedhelm Hildebrandt and colleagues combined exome capture with a method of ultra-fast data analysis to identify a new gene involved in a family of congenital cystic kidney diseases.

A cell’s exome consists of the chains of basic compounds that make up DNA, which leave the nucleus and produce proteins vital to body processes.

Many rare diseases that strike children and young adults result when a single gene malfunctions, scientists say.

“For us, it’s a big leap in what genetics can do,” Hildebrandt said.

“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,” he said.

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