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About Sickkids
About SickKids

January 2, 2008

Human Genetic Variation” named breakthrough of the year by the journal Science

On December 21, the international journal Science announced the breakthrough of the year - the important steps taken by researchers in 2007 to see how genomes differ among individuals and the implications of this variation for deciphering the genetics of complex diseases and personal traits. One of the leading research stories in this area was the publication of the first individual genome sequence of an individual, Dr. J. Craig Venter, decoded by the Craig Venter Institute, along with collaborators at SickKids and the University of California, San Diego related article. »»

The Toronto group, led by Stephen Scherer, PhD, senior scientist in Genetics & Genome Biology at SickKids, assisted in decoding the genetic variants found in Dr. Venter's DNA sequence, as well as in the clinical genetic studies. In particular, they catalogued the copy number variation (CNV) regions, a new form of genetic variation that Scherer's team co-discovered with Charles Lee, PhD at Brigham and Women's Hospital, Harvard Medical School, in 2004, which point to possible new explanations for individual uniqueness, as well as why disease develops. The large scale copy variations are publicly accessible in a database called the Genome Variation Database, regularly used by thousands of clinicians and scientists from around the world as a valuable resource for clinical genetic studies and often referred to as the “Toronto Variation Database” (http://projects.tcag.ca/variation).

Researchers then redefined the understanding of variation in the human genome in 2006, when an international team led by Scherer also showed that at least 10 per cent of genes in the human population can vary in number of copies—a finding that provides critical information for understanding human evolution and disease.

“With this type of knowledge now in hand, the stage is set for an era of personalized medicine where genome sequence information becomes a critical reference to assist with health-related decisions,” says Scherer.

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