Exome sequencing and the management of neurometabolic disorders” , download article here

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource, download article here.


A collaborative retreat was held in July 2012 to build momentum on existing achievements supporting individualized medicine and complex care within TIDE. Multidisciplinary clinicians and scientists came together representing expertise in methodology, medical anthropology, care management for children with complex neurodevelopment disorders and rare diseases, individualized medicine, communications and lean management practices. Work was presented out of Drs Jean Paul Collet’s, Osman Ipsiroglu’s, Bill McKellin’s and Clara van Karnebeek’s groups. The impetus of this meeting was two-fold: the need for care delivery models to support personalized care for complex children and the desire for enhanced alignment between TIDE projects with personalized care components. The overall goal is to improve care of children with complex needs.

Balancing what is within scope for TIDE with an eye to sustainability and integration with BC Children’s Hospital, actions items focused on evaluating existing coordinated care clinics, integrating personalized care tools into clinic practice, integrating quality improvement language in ethics applications and aligning with PHSA’s lean management practice, imPROVE. The meeting was chaired by Sylvia Stockler and moderated by Wynona Giannasi. All attendees were keen to participate in a follow-up retreat session.