IDIOM:  Idiopathic Diseases of Man
At the Scripps Translational Science Institute (STSI) we are focused on an individualized
approach to medicine. Currently, we are investigating rare and severe undiagnosed diseases
in STSI’s newest project known as Idiopathic Diseases of Man (IDIOM). Through the
use of whole genome sequencing, we aim to discover genetic variants underlying diseases
that remain undiagnosed despite ongoing care and follow-up by a physician. Ultimately,
we hope to identify viable treatment options for these patients.
While this approach has proven successful in a small number of pediatric cases,
applications of whole genome sequencing for medical purposes is in its infancy. To our
knowledge, this is the first study to apply this approach to both adult and pediatric patient
populations. By exploring genetic variants in patients with idiopathic diseases, we aim to
gain insight into treatment options for such conditions and advance medical knowledge
about rare and common diseases.
For more information or to refer a patient
contact: Idiom@scrippshealth.org
Primary Investigators:
Eric J. Topol, MD and Nicholas J. Schork, PhD
3344 N. Torrey Pines Court, Suite 300
La Jolla, CA 92037
858.554.5708
IRB NUMBER: IRB-11-5769
IRB APPROVAL DATE: 11/21/2011
IRB EXPIRATION DATE: 8/11/2012