Project Description
Challenge
While the past several years have seen a growing awareness of the role of genetic risk factors in cerebral palsy, studies regarding the role gene variants play, their severity, and resulting co-morbidities of cerebral palsy have only just begun.
Many new techniques in molecular genetics have emerged over the past few years, allowing for the quick and cost-effective evaluation of potential genetic expressions. These technologies have contributed to the identification of underlying genetic mutations.
Project Summary
Microarray screening has already helped to identify new and inherited duplicate sections of genes, known as copy number variations (CNVs). CNVs are often associated with autism spectrum disorders.
However, researchers, lead by Stephen Scherer, used the new high-resolution genome scanning and CNV scanning microarrays to perform the first screening for Cerebral Palsy. The team analyzed DNA from Cerebral Palsy children and their families, aiming to shed light on the potential genetic contribution to the causation of Cerebral Palsy.
They collected blood and saliva samples from over 170 families in three provinces, many identified through the Cerebral Palsy Registry.
Result
By the end of year five, researchers carried out a detailed genetic analysis of the samples. They found a significantly elevated rate of CNVs in children with Cerebral Palsy compared to a control group. This finding has the potential to affect the diagnostics in children with Cerebral Palsy and adds to our understanding of genetic vulnerability.
This family-based study of Cerebral Palsy could be the basis for the most comprehensive study of genetic Cerebral Palsy susceptibility, and a more extensive follow-up study is already underway. This discovery and ongoing research place KBHN researchers at the forefront of Cerebral Palsy genomics worldwide.
Team
Investigators
Maryam Oskoui, McGill University
Stephen Scherer, Hospital for Sick Children; University of Toronto
Marie-Pierre Dubé, Montreal Heart Institute; Université de Montréal
Michael Shevell, McGill University
Darcy Fehlings, University of Toronto
John Andersen, University of Alberta
