Cenk Sahinalp

SFU scientists share new clues about humans

December 2, 2010

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Five Simon Fraser University researchers and alumni are part of an international group of scientists that published two new studies in the journals Nature and Science that offer clues on how genomic differences between individual humans dictate their medical fate.

The Nature article reveals results from the pilot phase of the 1,000 Genomes Project, a three-year effort to sequence and compare the DNA of 2,500 individuals worldwide representing millions of genetic differences.

The project has so far identified 95 per cent of the genetic variants in any individual, which will help scientists trace the roots of diseases such as cancer, develop treatments and shed light on human evolution.

It is the most complete inventory yet of human genetic variations, cataloguing 4.9 trillion letters of human DNA code—enough to fill 300,000 copies of War and Peace.

“The difference between you and me or any pair of individuals is very small,” explains SFU computing science professor, Cenk Sahinalp, one of the scores of researchers who co-authored the two journal studies.

“However, those differences make us look, function and live differently. Between just two individual genomes there can be whole segments that are different. A block of several thousand letters can be totally missing in one individual and multiplied several times over in another.

“These structural differences not only determine how we differ from each other, but also are key to understanding how genome-based diseases originate and progress.”

In the companion piece to the Nature article in Science, Sahinalp’s grad students Iman Hajirasouliha and Fereydoun Hormozdiari and former students Farhad Hormozdiari and Can Alkan describe new computational tools they’ve invented that will help distinguish variations between healthy and diseased genomes.

“Structural variations are perhaps the main cause of genomic diseases such as autism, mental retardation, Alzheimer’s disease, Crohn’s disease and many types of cancers,” says Hajirasouliha.

“Our tools will help identify risk factors associated with these diseases and will enable early diagnosis.”


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