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.


Recently, Dr. Carlo Marra, Pharmaceutical Sciences, UBC, together with Dr. van Karnebeek and colleagues at UBC, completed a paper detailing the health economic analysis of a new diagnostic screening method for early diagnosis of Niemann Pick type C (NP-C) disease in patients with intellectual disability (ID). The authors show that screening this patient population as early as possible for NP-C, using a novel oxysterol method, provides a cost benefit over selective testing done later in a child’s development using molecular analysis and invasive skin biopsies, which is current practice.
Most importantly, application of this innovative oxysterol methodology as a screening approach among intellectually disabled children, reduces diagnostic delay, which, in patients with NP-C, is critical given the neurodegenerative and potentially life-threatening nature of the disease: Early diagnosis of NP-C is essential, as it facilitates early treatment with Miglustat and prevention of brain damage and severe impairment. Considered rare and potentially fatal, NP-C has an estimated prevalence of roughly 1 in 120,000 live births, however, it is often missed or underdiagnosed due to the its heteroegenous clinical presentation.

Based on the results of their health economic modelling, the Tide team recommends the novel oxysterol assay be considered a routine tool in screening for NP-C in patients with ID. Already in place at BC Children’s Hospital, the test will also be added it to the 1st tier of the TIDE protocol. Drs. Sinclair and Vallance, Biochemical Genetics Laboratory, UBC, are currently setting up the screening protocol in their Lab at UBC, using the new Tandem Mass Spectrometer funded by Actelion. (http://www.tidebc.org/index.php?id=3708517293125951502). The investigators acknowledge that the data generated should be carefully analyzed to detect methodological pitfalls and improve implementation.
The addition of this cost-effective screening test for early diagnosis of NP-C underpins Tide’s approach to treatable conditions: ‘Screen all, scrutinize few’.