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Scripps Launches Sequencing Study of Mysterious Diseases

By Matt Jones

NEW YORK (GenomeWeb News) – Scripps Health has launched a new whole genome sequencing study in an effort to determine the causes idiopathic diseases, a group of rare and serious diseases that do not respond to treatments and are difficult to diagnose, the institute said today.

Scripps expects that its Idiopathic Disease of Man (IDIOM) study will initially include up to six participants who have been referred from physicians, and it plans to collaborate with other medical research centers in what it said is the first WGS study of idiopathic disease. Data analysis for the project will be provided by the Scripps Translational Science Institute (STSI).

"For patients who have searched in vain for the cause of their unexplained illnesses, whole genome sequencing could provide important and potentially life-saving answers," Scripps Health Chief Academic Officer and principal investigator Eric Topol said in a statement.

The IDIOM study will engage a panel of physicians from a range of specialties to review and select patient cases beginning in October. The panel is not expected to limit the cases to any specific disease types, age ranges, gender, or ethnicity. To be eligible for the study, however, each patient and both of their parents will need to provide saliva and blood samples.

"Studies such as IDIOM will not only help fill a significant knowledge gap with respect to the causes of rare diseases, they will also help 'test-drive' the use of whole genome sequencing in the clinical setting more broadly," added Cinnamon Bloss, an STSI assistant professor and genomic scientist. "By reaching out to and including physicians in the process of selecting cases, interpreting and returning genomic results, we hope to help facilitate greater integration of genomics and medicine."

Scripps said that support for the study has come from the Anne and Henry Zarrow Foundation and scientific and medical support will be provided by Scripps Health. Specific details about the funding and support, however, will not be made public.