Friday, December 7, 2012

As a UI graduate student, Megan Ealy completed the first genome-wide association study ever undertaken for any type of hearing loss.

Ealy, who earned her Ph.D. in the UI’s Genetics Interdisciplinary Graduate Program in May 2011, studies otosclerosis. Otosclerosis is a form of adult-onset hearing loss caused by an abnormal bone growth in the middle ear.

People with otosclerosis have an abnormal sponge-like bone growing in the middle ear. This growth prevents the ear from vibrating in response to sound waves. Such vibrations are needed in order to hear. The disease affects one percent of all humans.

Ealy spent five years working with Professor Richard Smith’s molecular otolaryngology and renal research laboratories identifying genetic components of otosclerosis. This comprehensive study paid off, yielding information no one anticipated. Ealy found that the gene RELN plays a role in otosclerosis.

Linking RELN with the disease was an unexpected finding, since RELN encodes a protein that was previously thought to be involved only in brain development.

“The gene RELN is not intuitively a ‘good’ candidate gene for otosclerosis based on our current understanding of its function, highlighting the power of the approach Megan adopted to identify novel otosclerosis genes,” says Smith, professor of otolaryngology and faculty member in the Genetics Graduate Program. “By offering a new understanding of genetic contributions to otosclerosis, Megan’s work may ultimately lead to changes in disease management.”

Ealy was co-lead author of a study published in the American Journal of Human Genetics in February, 2009 announcing this discovery. She collaborated primarily with researchers from the UI and Belgium.

“We were like, ‘Now what do we do and where do we go from here?’ We’re trying to play with this gene more and figure out its role in bone,” Ealy says. “It’s very rewarding to open up a new avenue of research that can be conducted by a number of different labs.”

This significant finding distinguished Ealy’s dissertation, “Otosclerosis – Identifying Genetic Contributors to a Complex Hearing Disorder.”

Based on her excellence in doctoral research, Ealy was awarded the prestigious D.C. Spriestersbach Dissertation Prize in biological and life sciences by the Graduate College.

The Spriestersbach Prize is named for Duane C. Spriestersbach, who served as Graduate College dean from 1965 to 1989.When the prize was founded over 30 years ago, Spriestersbach hoped it would “serve as tangible evidence – as ‘gold standards’ – of the outstanding work of which graduate students are capable and to which all others should aspire.”

Ealy’s research is certainly worthy of the award.

“Megan's thesis research on otosclerosis is truly groundbreaking,” says dissertation committee member Dan Eberl, UI professor of biology and director of the Genetics Graduate Program. “She first carried out a highly valuable gene expression profile of otosclerotic tissue, providing a bank of differentially expressed genes that serve as a foundational reference against which all future researchers could draw in understanding the disease.”

Dissertation committee member Michael Anderson echoes Eberl’s assessment.

“Her thesis utilized several cutting edge genetic technologies, shed light on interesting biological phenomena, and was important to human health,” says Anderson, associate professor of molecular physiology and biophysics and faculty member in the Genetics Graduate Program.

Ealy currently is a postdoctoral research fellow in otolaryngology at the Stanford School of Medicine.

She and her fellow researchers are currently trying to determine what RELN is doing in bone to see how its gene mutations may affect bone remodeling in patients.