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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Our clinical tool, available via the website treatable-id.org, has a steady user base. Clinicians & scientists can use a mobile version of the tool by simply visiting the website from their device (phone or tablet).

As of last week the tool is available for IPhone and IPad via the App Store as well. Besides the diagnostic tool the app offers additional information on the TIDE program (news, the protocol, movies etc.). You can find the app in the App Store (via this link) and download it for free.
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It has been six months since TIDE BC was officially launched and Dr. Clara van Karnebeek and her TIDE BC partners have already presented some of their ground-breaking work at the Garrod Association Conference, held in the first week of May, in Winnipeg. The Garrod Association is made up of members of the Canadian Association Of Centers For The Management of Hereditary Metabolic Disorders and represents over one hundred top-tier clinicians, researchers and decision-makers in the field of inherited metabolic disorders. Dr van Karnebeek presented both the methods and the progress made so far in TIDE BCs evidence-based diagnostic protocol that is used to quickly identify children with treatable forms of global developmental delay/intellectual disability, also known as treatable IEMs.

First presented was TIDE BCs multi-level diagnostic method, with the supporting Web App also detailed:

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TIDE BC's preliminary success in finding patients with treatable IEMs was highlighted.

In the first 6 months, 130 patients were enrolled in the TIDE BC program, with 25% of these patients having a confirmed, and 17%, a probable, diagnosis. Of these, 10 patients were identified with a treatable metabolic condition and are now on track for a treatment program that supports their ability to achieve a greater level of development and intellectual ability. What is clear from these early results is that this novel approach has the potential to improve outcomes of many children who would have unnecessarily developed significant developmental and intellectual disabilities.
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On november 10th 2011 the Clinical Tool "Treatable-ID" was officially launched at BC Children's. The App is accessible via www.treatable-id.org
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