Idiopathic Diseases of Man
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 the Scripps Research Translational Institute are then applied in order to find the genetic cause of these unexplained illnesses and to unlock lifesaving 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.
Spectrum of KV 2.1 dysfunction in KCNB1-associated neurodevelopmental disorders, Kang SK et al., Ann Neurol. doi: 10.1002/ana.25607 PMID: 31600826
Physician communication of genomic results in a diagnostic odyssey case series, Rubanovich CK et al., Pediatrics doi: 10.1542/peds.2018-1099I PMID: 30600271
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases, Salfati EL et al., Genome Med. 2019. doi: 10.1186/s13073-019-0702-2 PMID: 31847883
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.
“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, Gary Robbins, The San Diego Union-Tribune