Idiopathic Diseases of Man (IDIOM)

The IDIOM study uses cutting edge genome sequencing technology to collect genetic data from adult and pediatric patients with an idiopathic disease – serious, rare health conditions that defy a diagnosis or are unresponsive to standard treatments. Sophisticated genetic analysis techniques developed at STSI are then applied in order to find the genetic cause of these unexplained illnesses and to unlock life-saving answers.

Several novel genomic findings have been identified and published. Additionally genetic causes of disease that were missed in standard care have been identified indicating the utility of genomic sequencing in the clinic. Some participants have seen immense benefit due to the identification of genetically guided therapies or through forming communities with other individuals with mutations in the same gene.