research
Seed funding for projects across the entire spectrum of hearing and balance
Why I Appreciate My
#StartWithERG By Regie Santos-Cortez, M.D., Ph.D.
I grew up in metro Manila and received my medical degree from the University of the Philippines Manila College of Medicine–Philippine General Hospital, where I also did a residency in otorhinolaryngology. Because of my interest in the genetics of hearing loss, I received scholarships to study genetic epidemiology at the Erasmus Medical Centre in Rotterdam, the Netherlands, and at Baylor College of Medicine in Houston. After obtaining my Ph.D., I practiced otolaryngology in the Philippines while initiating a project on otitis media (middle ear infection) genetics. Eventually I made the decision to move to the United States and give up my surgical career. I decided to go into research full-time instead of going back into residency or fellowship training. It was a huge leap of faith for me. The Emerging Research Grant (ERG) awarded to me by Hearing Health Foundation was the first grant I received as an early-career researcher in the U.S. and set me on the right path. ERG funding was instrumental in transforming an incubator research project on otitis media genetics into a research program that is the basis for my current lab where I am an independent principal investigator. However, even though I am no longer involved in clinical practice, my experience as an otolaryngologist has continued to inform my research and helps me to understand the perspectives of both clinicians and patients.
Genetic Discovery
The ERG grant was awarded for 2011–2013, and continued until 2014 thanks to a no-cost extension year. The project was titled “Identification of genes that predispose to chronic otitis media in an indigenous Filipino population.” ERG funds were used for genetic sequencing (specifically, exome sequencing and follow-up Sanger sequencing) using DNA samples from an indigenous population that had a very high prevalence of chronic otitis media. Using the sequence data, we identified the first rare variant for otitis media in humans. This is in the A2ML1 gene which encodes a protease inhibitor. This was published in Nature Genetics in 2015, with HHF cited as a funding source. Based on our A2ML1 finding, our group of collaborators obtained an R01 grant from the National Institute on Deafness and Other Communication Disorders (NIDCD) that was funded from 2016 to 2022. The aims of the R01 study were to identify novel variants that contribute to otitis media susceptibility and induce changes in the middle ear microbiome. 26
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