“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.
____________________________________________________________________________________
New Tandem Mass Spectrometry Machine to accelerate and innovate diagnosis & treatment monitoring
Thursday, February 14 02:00 PM | fundingOne of the objectives of TIDE-BC is development of tests by a relatively new technology called tandem mass spectrometry (TMS). With TMS, a large number of metabolites can be measured simultaneously to screen for treatable metabolic disorders.
Supported by TIDE, work is underway to develop a comprehensive amino acid panel for the diagnosis and monitoring of a variety of treatable amino acid and urea cycle disorders. Test development includes oxysterol analysis to screen for Niemann Pick type C, for which there is a new treatment. To increase capacity further for new test development, a fundraising effort was launched by Dr. Vallance and Dr. Sinclair (BGL Lab Scientists) to acquire an additional TMS instrument. Over $90,000 was raised from personal donations and industry sponsors, as well as a contribution from TIDE-BC, with the difference generously provided by the Provincial Health Services Agency.
The TMS instrument is dedicated to the memory of Judie Nelson who was responsible for years of TMS method development in the Dept of Pathology and Laboratory Medicine.
___________________________________________
The TMS instrument is dedicated to the memory of Judie Nelson who was responsible for years of TMS method development in the Dept of Pathology and Laboratory Medicine.