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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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. 

TIDEX was designed by a collaborative group of bio-informaticians (led by Dr Wasserman) in collaboration with clinicians (led by Dr van Karnebeek), to take advantage of new technologies to help crack the code for those families who have undergone the million dollar workup and are still unable to receive a diagnosis for their child's debilitating condition. These technological advances, coupled with TIDE BCs already proven approach, has every promise in providing much needed answers to help those families.

In order to provide those answers, TIDE-BC investigators are presently looking for those undiagnosed patients who have some evidence of an interrupted metabolic pathway or enzyme deficiency. This may be abnormal chemicals in body fluids such as blood or urine or test results that provide a clue that a biochemical pathway may be altered. Then by comparing the protein coding regions or "whole exome" of DNA they hope to find the cause. The additional sequencing of one or more healthy family members helps them to eliminate sequence variations that do not contribute to the disorder. Once the genetic cause is found, this group of metabolic disorders are often amenable to simple and successful treatments, sometimes only involving dietary changes or dietary supplementation.

We've seen exciting bio-informatics results for the whole exome sequencing data for the first 2 families enrolled in TIDEX. Confirmation studies of potential new metabolic disease genes are currently in process!
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