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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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. Although these diseases are all rare, as a group, the treatable IEM patients may actually comprise 5% of ID. In other words, 1 in 20 patients with ID may actually have not developed ID if they would have been screened soon enough. The is not an insignificant number and the impact of this finding was such that The American College of Medical Genetics has asked Drs. van Karnebeek and Stockler to establish the new international guidelines for metabolic evaluation of intellectual disability and global developmental delay. With expert collaborators such as Dr. Michael Shevell (Montrea, CA), Dr J. Moeschler (Dratmouth, USA), and Dr J. Zschocke (Innsbruck, AU) the TIDE BC group is finalizing this consensus document. To be launched later in 2012, these guidelines will make the TIDE flow beyond provincial borders into Canada and beyond, and impact lives of ID patients around the world.

As the presentation of this work is, in fact, the collaborative effort of many people, we would like to take this opportunity to name all the people that supported the work that forms the basis of this presentation and successful implementation of the TIDE diagnostic protocol:

Clara van Karnebeek1,2, Mary Connolly2,3, Michelle Demos2,3, Wynona Giannasi2, Roderick Houben2, Gabriella Horvath1,2, Anna Lehman2,4, Mir Lafek2, Yolanda Lillquist1,2, Tyler Murphy2, Millan Patel2,4, Ramona Salvarinova1,2, Graham Sinclair 2,5, Hilary Vallance2,5, Sylvia Stockler1,2

1. Div. Biochemical Diseases;
2. TIDE-BC;
3. Div. Pediatric Neurology,
4. Dept. Medical Genetics,
5. Biochemical Genetics Laboratory, BC Children’s Hospital / University of British Columbia, Vancouver, B.C. Canada
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