Iowa City — University of Iowa researchers working with colleagues at Baylor College of Medicine have developed OtoSCOPE, a test that can screen all of the genes known to cause deafness in a single run, in 1 to 3 months and for about $2,000.
Traditional testing of the exact genetic cause of inherited deafness involves sequencing one gene at a time, a process that can take up to a year and cost roughly $1,000 per gene, or about $75,000 to test all known deafness-causing genes.
The OtoSCOPE test means that physicians will have quicker answers for families anxious to determine treatment options or learn the likelihood that future children will have hearing loss.
OtoSCOPE captures and sequences all the portions of a patient’s DNA that coincide with areas of the human genome known to contain deafness mutations. This new method uses the latest DNA sequencing technology to simultaneously screen all 54 genes known to cause non-syndromic deafness–-hearing loss that is not associated with other medical problems—along with a dozen additional genes that cause syndromic deafness—hearing loss that occurs with other complications, such as blindness.
The test covers two of the most common types of syndromic deafness: Usher syndrome and Pendred syndrome. Usher is the most common cause of deaf-blindness in the U.S., but while the deafness occurs early, blindness does not develop until the child is around 10 years old.
OtoSCOPE will be available through the UI’s Molecular Otolaryngology and Renal Research Laboratory (MORL) by spring 2011 to clinicians and patients within the US and potentially in other countries.
Adam DeLuca, a UI graduate student and co-first author, and Todd Scheetz, PhD, UI associate professor of biomedical engineering, also contributed to the development of OtoSCOPE. The team also included Kyle Taylor, UI graduate student in biomedical engineering, and Jose Gurrola, MD, resident physician in otolaryngology.
The research was funded in part by grants from the National Institutes of Health.
SOURCE: The University of Iowa