Over 80% of rare genetic diseases occur during childhood or adolescence and about 30% of children with rare diseases do not make it to their 5th birthday. Genome sequencing could change this.
Sainte-Justine’s Integrated Centre for Pediatric Clinical Genomics offers clinical genomic analysis services to determine a child’s detailed genetic blueprint and allow precise diagnosis of rare single gene disorders and childhood cancers, prevent these diseases from developing and optimize the early management of patients.
The Center’s Mission
The mission of the Integrated Centre for Pediatric Clinical Genomics is to assess sequencing needs, develop appropriate technical strategies and provide quick access to services. Priority is given to clinical and translational studies, with a focus on enabling diagnostic solutions to challenging and novel conditions, while enabling research studies in genomics.
The Center’s Services and Clienteles
The Integrated Centre for Pediatric Clinical Genomics operates a next-generation sequencing (NGS) platform and offers library preparation and sequencing services for the research community at the CHU Sainte-Justine Mother-Child Research Hospital (affiliated with Université de Montréal), as well as collaborators and external clients.
The Integrated Centre for Pediatric Clinical Genomics offers users of its sequencing platform exclusive library preparation services (genome, exome, transcriptome) from genomic DNA/RNA samples or amplicons. Library preparation services include quantification of the starting material and are limited to the sequencing technologies used by the Center described below.
Next-generation sequencing (NGS)
The Integrated Centre for Pediatric Clinical Genomics offers NGS services using various instruments:
- Illumina’s HiSeq 4000
- Illumina’s HiSeq 2500
- Life Technologies’ Ion Proton
- Life Technologies’ Ion Torrent - Personal Genome Machine (PGM)
Many applications are available including whole genome, exome, transcriptome and amplicon sequencing.
For more information, visit the intranet (in French only).
- Jacques L. Michaud, MD, Scientific Director
- René Allard, MSc, Manager
- Charles Privé, Genomic Platform Manager
- Virginie Saillour, MSc, Bioinformatician
- Ariane Pagé Sabourin, MSc, Research Assistant
- Élodie Hip-Ki, Research Assistant
For further information
Manager, Integrated Centre for Pediatric Clinical Genomics
514-345-4931, Ext. 6193
Genomic Platform Manager, Integrated Centre for Pediatric Clinical Genomics
514-345-4931, Ext. 2969