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.

Publications

• Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder, Jones MC et al., Genet Med. 2017.  doi: 10.1038/gim.2017.20 PMID:28383544
• Symptom-driven idiopathic disease gene identification, Molparia B, Pham PH, Torkamani A. Genet Med. 2015. doi: 10.1038/gim.2014.202. [Epub ahead of print] PMID: 25590976
• ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations, Chen DH et al., Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.
• A genome sequencing program for novel undiagnosed diseases, Bloss CS et al., Genet Med. 2015 Dec;17(12):995-1001. doi: 10.1038/gim.2015.21. Epub 2015 Mar 19.
• De novo KCNB1 mutations in epileptic encephalopathy, Torkamani A et al., Ann Neurol. 2014 Oct;76(4):529-40. doi: 10.1002/ana.24263. Epub 2014 Sep 19.
• Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia, Chen YZ et al., Ann Neurol. 2014 Apr;75(4):542-9. doi: 10.1002/ana.24119. Epub 2014 Mar 13.

Press

• “We Gained Hope.” The Story of Lilly Grossman’s Genome, Ed Yong, National Geographic
• How Genome Sequencing Creates Communities Around Rare Disorders, Ed Yong, The Atlantic
• The search for what’s wrong with Lilly, Garry Robbins, The San Diego Union-Tribune