Research focuses on gene mutation that leads to cleft palate

A College of Osteopathic Medicine student has been awarded the prestigious Ruth L. Kirschstein National Research Service Award from the National Institutes of Health for his work on identifying the causes leading to cleft palate.

Youssef Kousa, a fifth-year candidate in the college's D.O.-Ph.D. program, will receive $65,000 over 21 months for tuition, fees and a stipend.

"I am excited and humbled by the opportunity," said Kousa of the award from the NIH's National Institute of Dental and Craniofacial Research. "I hope that I can use this fellowship to give something back with my research."

The palate separates the oral and nasal cavities and allows breathing to occur alongside eating and drinking. Clefting occurs when there is cell dysfunction during palatal development. It is a common developmental defect with serious postnatal consequences, such as difficulty feeding and the inability to gain or maintain weight at critical neonatal periods.

Kousa is working under the direction of Brian Schutte of the Department of Microbiology and Molecular Genetics. Schutte and his team identified a gene - interferon regulatory factor 6, or IRF6 - as being a major cause of clefting in humans.

The NIH award, co-sponsored by researcher Andrea Amalfitano of the College of Osteopathic Medicine, now will allow Kousa and colleagues to identify how clefting occurs due to mutations in IRF6 with hopes of designing interventions to prevent the birth defect.

Schutte's team has developed a mouse model that has begun to uncover several important facts about IRF6 and its role in palatal development. As part of the project, Kousa will adjust the amount of IRF6 provided during development and monitor whether clefting occurs and at what levels.