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.

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TIDE BC is about to benefit from the Ph.D. thesis work that will be undertaken by Casper Shyr. Casper, a Ph.D. student from the University of British Columbia, has been awarded three years of funding from the Canadian Institutes of Health Research (CIHR) and will apply his talents to help improve the way clinicians and support staff receive new genetic information so that they can apply this information in a meaningful way. The focus of Casper’s work will involve metabolic disorders causing intellectual disability, making him a welcome addition to TIDE.

Under Dr. Wyeth Wasserman’s supervision, Casper will be using computing power and designing custom software to quickly analyze which pieces of genetic information, called mismatches or variants, would most likely be of interest to any clinician requesting genetic analysis for his or her patient. The clinician can then more readily identify the most likely candidate gene for further and more in-depth analysis. Casper’s efforts promises to result in clinicians and their patients receiving the medical information that they need in a quicker and more targeted way. TIDE has already benefitted from this kind of bioinformatics computing approach through the successful identification of new disease gene(s) causing intellectual disability in the TIDEX project.
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