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Segmental duplications in neurodevelopmental, neurological, and behavioral disorders

Genoma España and Genome Canada Joint R+D+I Projects in Human Health, Plants and Aquaculture
Genome Centre(s):
Ontario Genomics
Project Leader(s):
Stephen Scherer (The Hospital for Sick Children), Xavier Estivill (Centro de regulacion Genomica)
Fiscal Year Project Launched: 
Project Description: 

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.

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).