Project Description
Challenge
A lot of genomics data has been published on neurodevelopmental disabilities, but researchers face challenges in accessing this information. Data found in the literature is often scattered and difficult to synthesize, and simply aggregating data onto one platform isn’t sufficient.
Project Summary
This project aimed to examine the literature on the genomics of FASD, autism, and cerebral palsy. Afterward, it sought to perform both comparative and meta-analyses. The end goal was to have a searchable database that allowed for a one-stop-shop where researchers could find information about genes and their implications in neurodevelopmental disorders. Having this type of database would allow for improved insight into the impact of genetics on brain-based disabilities. More importantly, it could contribute to the development of biomarkers, diagnostics, and treatment strategies.
Result
The team has created a database called Neurocarta, which held more than 135,000 lines of evidence linking over 11,000 genes to 2,850 phenotypes via 81,000 publications. The team used Neurocarta to perform a meta-analysis looking at thousands of genes in 12 independent studies as possibly being involved in ASD and managed to identify genes that were consistently differentially expressed in individuals with the disorder. These results are the most persuasive evidence to date of a common genetic signature in the brains of individuals with ASD. This evidence demonstrated that while it can be hard to discern anything significant from individual studies, looking at them collectively can be very powerful.
Team
Investigators
Paul Pavlidis, University of British Columbia
Collaborators
James Reynolds, Queen’s University
Lonnie Zwaigenbaum, University of Alberta
Michael Shevell, McGill University
Marie-Pierre Dube, University of Montreal
Steven Scherer, University of Toronto
