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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The TIDEX team publishes their new discovery: "Carbonic anhydrase VA deficiency as novel and treatable cause of hyperammonemia in the young child" in the American Journal of Human Genetics, February 2014 (click here for the Epub ahead of print).

newborn
Read more about the research of our UBC team in collaboration with colleagues in the USA, UK, and Australia, via the UBC Faculty of Medicine website ("Genetic discovery helps newborns beat a life-threatening condition").



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MEshop
Compared to the human reference genome, a single exome can reveal over 120,000 variations. In order to facilitate the discovery of causal variations, filters such as frequency, mutation type, and mode of genetic inheritance are often employed. However, even after filtering for rare non-synonymous mutations, over 50 candidate genes may remain. Manually going over the literature for each gene and matching to the clinical phenotype is time consuming and inefficient.
To speed up the process of literature review, Warren Cheung from the Wasserman lab has designed a tool called MeSHOP.

The tool is useful when the researcher has a clinical phenotype in mind and wishes to know what genes are associated with that term. Simply supplied with a MeSH (Medical subject heading) reflecting the clinical phenotype, the program looks at the PubMed articles for each gene and extracts a list of over-represented MeSH terms. It then builds an internal “dictionary” based on that list and evaluates the strength of association between a gene and the input query. For output, the program summarizes a list of ranked genes predicted to be associated to the MeSH input above a chosen statistical threshold.
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Translating Research into Better Care
Drs. Clara van Karnebeek and Ramona Salvarinova presented on behalf of the TideX team the first report of a newly discovered inborn error of metabolism, carbonic anhydrase 5A (CA5A) deficiency at the September 2012 International Society for the Study of Inborn Errors of Metabolism (SSIEM) meeting. This enzyme is pivotal for normal cell function. The impact for patients is significant as the genetic condition is treatable. The list of treatable intellectual disabilities has now expanded to 82. Early recognition of the disease, which causes life-threatening symptoms at birth, allows intervention to prevent brain damage. This discovery is a breakthrough, as it allows us to better understand how the body produces energy and neutralizes toxins.

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Within 1 year of establishing its research and clinical care program, TIDE-BC:
  • discovers a new Treatable Intellectual Disability which expands our understanding of intermediary metabolism (read more...)
  • is the 1st world-wide to report promising results of new therapy for a metabolic epilepsy (read more…)
  • publishes on the www.treatable-id.org App as clinical tool to improve care for diseases (read more…)
The above is proof that TIDE succeeds in the missions they set out to accomplish in 2011:
  1. bridging the Ringroad & Translation of Knowledge into Better Care;
  2. increasing the number of treatable intellectual disabilities, from 81 in 2011 to 82 (and counting) in 2012;
  3. establishing global leadership in the field or rare metabolic diseases.
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scrnsht100
An exciting new study called TIDEX has recently been launched as part of the TIDE BC initiative. The aim of TIDEX is to identify new genes and/or mutations causing hitherto unexplained cases of developmental delay/intellectual disability using the latest cutting edge genomic technologies and analytical methods. 
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