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Understanding genetic disorders like cystic fibrosis could be easier after researchers at a B.C. university made a breakthrough in gene splicing.

Stephen Rader, a chemistry professor at the University of Northern British Columbia, said researchers have discovered that an RNA molecule previously thought to play no role in gene splicing is, in fact, essential.

Researchers have also discovered a new way to study what the U4 molecule does, a problem Prof. Rader said scientists have grappled with for about three decades.

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"Splicing is so important in our bodies that if anything goes wrong with it, it causes various kinds of disease, including cystic fibrosis and a whole slew of others. The idea then is that what we learn about how splicing happens normally will help us to understand what goes wrong in these diseases," he said in an interview.

Gene splicing involves the cutting out of unnecessary portions of a gene. The remaining parts of that gene then join together. Although the process occurs naturally, scientists are able to mimic it.

"You've probably heard DNA described as the blueprint of the cell. Ribonucleic acid is like a photocopy of that blueprint, but it turns out that those photocopies have a bunch of extra stuff in them. Those are parts that aren't part of the blueprint and they have to be taken out," Prof. Rader explained.

Cystic fibrosis is the most common fatal genetic disease among young Canadians. Maureen Adamson, chief executive officer of Cystic Fibrosis Canada, said each week one Canadian dies as a result of the disorder.

"This research is important because it has such broad implications for so many diseases, and could benefit people with cystic fibrosis," Ms. Adamson wrote in a statement. "Genetic research may provide an opportunity to change how we treat cystic fibrosis by targeting the basic defect, instead of just alleviating the symptoms. … We are so close to a cure and breakthroughs like this could help people live longer, healthier lives."

Prof. Rader said the findings - which will be presented at the Western Canada RNA Conference hosted by UNBC on July 18 and 19 - could also make it easier to understand disorders like spinal muscular atrophy and certain types of dwarfism. He said the project was led by recent graduate Amy Hayduk.

Ms. Hayduk developed a new way to study how the U4 molecule acts inside a test tube. "It's a system that we call reconstitution," Prof. Rader said. "The idea is that you get rid of the U4 molecule that's normally there and replace it with one of your making. That allows you to test a variety of mutations. We can remove parts of the molecule, or we can change it around."

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Andrew MacMillan, a professor in the University of Alberta's department of biochemistry, credited UNBC researchers for their important observation on a mysterious aspect of gene splicing.

But Prof. MacMillan cautioned against drawing too specific a link to any one genetic disease, like cystic fibrosis, for fear of raising people's hopes. He said there's still much more work to be done.

Tracy Johnson, who teaches in the division of biological sciences at the University of California, San Diego, called the news a "very exciting breakthrough."

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