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.


Medical post TIDE
The Medical Post has featured a story on TIDE BC in their November issue "Turning the TIDE for children with Intellectual Disability".

"A group of physicians and scientists at BC Children’s Hospital (BCCH) is dramatically shifting the way diagnosis and treatment of intellectual disability is done. Launched in October 2011, the Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC) program includes new interventional and therapeutic approaches that are taking children with intellectual disability from fully dependent care to being able to participate in and contribute to society.", the article starts.

treatable ID app
The article focusses on the new diagnostic protocol, how it works and what the effects are. “For families in whom the cause of the disease is not identified, there is still some relief in that their child has received a state-of-the-art workup with the focus on treatability,” Dr. van Karnebeek said. “When we see a patient who has symptoms of a disease we don’t recognize or cannot identify, we have the possibility to implement the newest genetic technologies to help identify the gene responsible. In conjunction with our colleague scientists at the University of British Columbia and worldwide, we think about how to treat the gene using existing therapies and how their metabolic diseases can be successfully treated.”

The whole article is available online
via this link after registering here (free registration).