The Treatable-ID app focusses on the diagnosis of 81 treatable rare diseases that cause Intellectual Disability.
The app features a tool for both clinician & scientist that is designed to facilitate the diagnostic approach to treatable ID & stimulate an evidence-based approach to rare diseases. The tool provides an overview of biochemical categories, signs & symptoms, diagnostic tests, therapies & evidence.
As part of the TIDE BC project the app also provides more general information on treatable ID and access to the evidence based diagnostic protocol
TIDE BC (Treatable Intellectual Disability Endeavor in British Columbia) is a care & research initiative with a focus on prevention and treatment of Intellectual Disability (ID). ID seen in some children is due to treatable genetic conditions known as inborn errors of metabolism. Many of these are treatable.
A group of dedicated clinical scientists at the Childrens Hospital in Vancouver, Canada recently developed a tool to help diagnose a total of 81 treatable rare diseases that cause intellectual disability. They developed a means to help doctors identify a small portion of the children who develop intellectual disability for which causal therapy is available - with the potential to prevent brain damage and improve developmental outcome. Their work was recently published in Orphanet Journal of Rare Disease and Molecular Genetics and Metabolism, and is the first set of studies to dramatically shift the approach in intellectual disability from descriptive to interventional.