Diagnosis Using Integrated Metabolomics And Genomics In Neurodevelopment (IMAGINE)

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Patricia Birch
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Brain injuries in early life are commonly thought to cause cerebral palsy in many children, but in some children the underlying cause is a metabolic or other genetic condition. Advances in genomics and metabolomics now allow us to diagnose these other causes of atypical cerebral palsy, and we believe that doing so will enable us to devise more personalized treatments that improve the outcomes for affected children.

Research theme:
BRIGHT Beginnings: Projects to optimize brain and developmental outcomes

Age range: 
Under 19

Start date:
April 2017

Principal Investigators: 
Dr. Jan M. Friedman, University of British Columbia
Dr. Clara van Karnebeek, University of British Columbia

2020-21 Project Update

2019-20 Project Update

Our team has been working to recruit families in our IMAGINE genomic and metabolomic study for children with atypical cerebral palsy.  We are pleased with our progress. To date, we have enrolled 87 families, including 11 where two or more children are affected. We expect to reach our enrolment goal of 100 families by autumn 2020. 

Analysis of the data gathered thus far has allowed us to provide a definite or probable genomic diagnosis for roughly half of the families. It is likely that further answers will emerge in the next 9 months from metabolomic studies and from new bioinformatic methods currently being developed by our team’s bioinformaticians.

We have noticed that the emotional responses of families can range significantly when hearing their results, ranging from huge relief to profound sadness. Recognizing that this is a time where parents often need extra support, IMAGINE’s summer student, Julia Handra, alongside parents Brenda Lenahan, Isabel Jordan, and Kelsey Ohs, co-designed a customizable e-booklet (pictured below) to help families navigate their family’s post-result journey, which has been well received.

Project News