On January 21, 2004 three large-scale genomics research projects were funded for a total value of $17 million, half of which was provided by Genome Canada and the other half by Genoma España. The Competition was the result of the Framework Agreement to Promote Scientific and Industrial Cooperation between Canada and Spain, which was signed in May 2002. One of these projects was funded through Ontario Genomics:
Segmental duplications in neurodevelopmental, neurological and behavioral disorders
Project Leaders: Stephen Scherer; Xavier Estivill
Institutions: The Hospital for Sick Children
Genetics is known to contribute significantly to many of the neurodevelopmental and behavioral diseases but in most cases, the causative molecular defect has not yet been determined. Therefore, there are no tests for early detection and diagnosis of these disorders and there is little information pertaining to their biological basis. An increasing number of neurological and behavioral disorders, however, are due to changes in the architecture of specific sites along the DNA of chromosomes in the human genome. The importance of such chromosome alterations has further been stressed with the information obtained with the human genome sequence, which has now been shown to harbor “molecular signatures” which facilitate rearrangements of genomic material.x
Furthermore, it has been shown that there is variability among individuals and species regarding the genomic structure and the copy number of genes located at specific regions of the genome, which, in turn, seem to play an important role in evolution. The regions, that comprise an amazing 5% (150 million chemical bases) of the content of the human genome and contain these molecular signatures, known as segmental duplications or duplicons, have not yet been accurately or completely characterized by the large-scale DNA sequencing projects.
Other principal investigators include scientific research groups from the University of Toronto, the University of British Columbia, SeeDNA Biotech, Fundacio Parc de Recera Ciomedica de Barcelona, Universidad Pompeu Fabra, MedPlant Genetics (Spain), and CAGT-Citogen (Spain).