International partnership to produce "gold standard" gene copy reference of the human genome

    Wellcome Trust grant expands the Toronto Database

    TORONTO, March 20 /CNW/ - A grant of CDN $870,000 awarded to The Centre
for Applied Genomics (TCAG) at The Hospital for Sick Children (SickKids)
jointly with the European Molecular Biology Laboratory's European
Bioinformatics Institute (EMBL-EBI) will collect, organize and curate
genome-wide information, enhancing the translation of genetic information into
new diagnostic, prognostic and therapeutic tools for the improved health of
    The funding will expand operations of TCAG's Database of Genomic Variants
(DGV) - known as "the Toronto Database" - the world's premier database housing
structural and copy number variation data in the human genome, providing
significant support for investigations into structural variation in human
biology, considered by Science magazine as the breakthrough story of 2007.
    "The DGV has served the community well, and with this new grant we can
expand our data curation capabilities, as higher resolution micro arrays and
DNA sequencing accelerate structural variation discovery," says Dr. Stephen
Scherer, DGV founder, senior scientist in Genetics & Genomic Biology at
SickKids and professor of Molecular Genetics at the University of Toronto. It
was Scherer who with Lars Feuk (Toronto), Charles Lee (Boston) and Matthew
Hurles and Nigel Carter (Wellcome Trust Sanger Institute) among other
colleagues discovered the existence of CNVs as the most common form of genetic
variation in the human genome.
    Sequencing of the human genome resulted in discoveries about the
differences in our genes and their relationship to the tremendous variety of
the human species. Only a few years ago scientists also discovered that
certain genes are present in multiple copies in some individuals but not in
others, and these copy number variable regions known as CNV have been shown to
influence susceptibility to disease and response to treatments. Advances in
CNV detection technology have added to the number of known CNV regions in the
genome; yet these regions are still considered vastly under-ascertained.
Additional technological advances ensure that the rate of data generation will
continue to dramatically increase.
    "The revolution in medicine arising from our understanding of the human
genome is only just beginning," says Hon. John Wilkinson, Ontario's Minister
of Research and Innovation. "Through the state-of-the-art core genomics
resources and services at SickKids that drive this activity, Ontario will lead
the exponential growth in information researchers and industry need to develop
new diagnostic tests and treatments."
    The Wellcome Trust funding supports the collection, organization and
sharing of CNV data that is being generated around the world into a central
repository, helping researchers maximize this knowledge for understanding
human variation including those genetic differences responsible for disease.
    "Analysing data from large-scale studies of human variation allows us to
create a detailed map of structural differences in the human genome; this will
help scientists to understand the genetic basis of individuality, including
differences in susceptibility to many common diseases," says Dr. Paul Flicek,
the lead investigator of the EMBL-EBI team and joint head of the popular
Ensembl Genome Browser. The current DGV is accessed daily by thousands of
clinicians and scientists worldwide. Among them is Dr. Mansoor Mohammed, chief
executive officer of Combimatrix Diagnostics in California whose clinical
diagnostics rely on the accurate and updated DGV.
    "The biological importance of copy number variability is clear, only
three years following its discovery. With the technology now available to
discover CNV regions at an unprecedented resolution, CNV research will be
greatly facilitated by this database," adds Dr. Alan Schafer, head of
Molecular and Physiological Sciences, Wellcome Trust
    Key members of the new partnership include SickKids scientists Dr. Lars
Feuk of the Genetics & Genome Biology Program at SickKids, along with Jeff
MacDonald, Junjun Zhang and Bhooma Thiruvahindrapduram of TCAG. The DGV is
currently funded by the Ontario Ministry of Research and Innovation, Genome
Canada through the Ontario Genomics Institute, the McLaughlin Centre for
Molecular Medicine and the SickKids Foundation.

    SickKids, affiliated with the University of Toronto, is Canada's most
research-intensive children's hospital and the largest centre dedicated to
improving children's health in the country. As an innovator in child health,
SickKids improves the health of children by integrating care, research and
teaching. The mission of SickKids is to provide the best in complex and
specialized care by creating scientific and clinical advancements, sharing our
knowledge and expertise and championing the development of an accessible,
comprehensive and sustainable child health system. For more information,
please visit SickKids is committed to healthier children for
a better world.

For further information:

For further information: Janice Nicholson, The Hospital for Sick
Children, (416) 813-6684,

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