Treatable-ID

可治疗的罕见疾病，导致智力残疾的诊断。

The Treatable-ID app is an interactive tool that focusses on the diagnosis of 81 treatable rare diseases that cause Intellectual Disability (ID).

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. The app also provides access to the evidence based diagnostic protocol.

A group of dedicated clinical scientists at the Children's Hospital in Vancouver, Canada 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 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.