Regie Santos-Cortez, MD, PhD
Research Activities
Our goal is to identify genetic and epidemiologic factors that influence risk for otolaryngologic diseases, such as otitis media, hearing loss, vestibular disorders and obstructive sleep apnea/sleep-disordered breathing. Our studies are made possible through close collaboration with scientists and clinicians on campus and in multiple institutions within the US and the Americas, Asia, and Europe.
Main Projects
Hearing loss in Hispanic populations
Hispanic populations are historically understudied in regards to genetics of hearing loss. Therefore, our lab is working to identify novel genes and variants in Hispanic populations with sensorineural hearing loss (SNHL).
Multi-omic study on obstructive sleep apnea (OSA)/ obstructive sleep-disordered breathing (oSDB)
Our lab is investigating the various genetic factors related to OSA/oSDB to help identify risk factors which can shed light on pathophysiology, with the goal of improving diagnosis specificity and treatment.
Identifying novel genes for otitis media (OM) susceptibility
We have identified and are investigating novel genes and variants that increase susceptibility to OM and related diseases using DNA/RNA, microbiome and histopathology analysis. For functional validation, we have also developed novel mouse models.
Current Lab Members
Helen Gomez, BS
PhD Candidate - Human Medical Genetics and Genomics
Helen obtained her undergraduate degree in Genetics and Biotechnology from New Mexico State University. During her undergraduate studies, she focused on understanding the function of bacterial RecN in double-stranded DNA breaks and its role in stimulating RecA-dependent homologous recombination. Currently a PhD candidate, Helen is dedicated to exploring the genetic underpinnings of otolaryngologic diseases, particularly hearing loss and otitis media. Her research aims to identify variants associated with susceptibility to these diseases through comprehensive multi-omic analyses. A pivotal aspect of her thesis work involves utilizing mouse models to investigate gene expression during middle ear infections. Outside of the lab, Helen loves to binge-watch reality TV, is a big foodie, and is always on the lookout for a new hobby.
Matthew Hill, MD
T32 Research Resident
Matt obtained his undergraduate degree in Biology from the University of Oregon where he worked in the Takahashi Lab studying sound localization. He then went on to complete his master’s degree in Physiology and Biophysics from Georgetown University. From there, he completed his medical degree and master’s degree in Clinical and Translational Research from Oregon Health & Science University. During his graduate studies at OHSU, he worked in the Nicolson Lab investigating the molecular basis of mechanotransduction and synaptic transmission in auditory/vestibular hair cells. He then matched as a T32 research resident in the Department of Otolaryngology-Head & Neck Surgery. Matt is currently working on projects related to the genetics of hearing loss and otitis media. In his free time, he enjoys working on house projects, golfing, camping, and spending time with his wife and dog.
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Landen Mayher, BS
Clinical Research and Education Coordinator
Landen obtained his undergraduate degree in Biology from Gannon University where he researched the antimicrobial effects of ultraviolet light, conducted a microbial survey, and assisted in writing a protocol to develop mRNA vaccines targeting frame shift variants in cancers alongside his PI, Dr. Vanderlaan. Currently, he is applying to medical school with aspirations of becoming a physician-scientist. Outside of the lab, he enjoys hiking 14ers, snowboarding, fishing, home improvement projects, and following the Cleveland Browns (unfortunately).
Kiera Willford
Undergraduate student, Pathways in Genomics Research Experiences for Undergraduates (PATH-GREU)
Kiera is currently pursuing a Bachelor of Science degree in Biology with minors in Chemistry and Psychology at Metropolitan State University of Denver. She is an active participant in the Pathways in Genomics Research Experiences for Undergraduates (PATH-GREU) program, in partnership with the University of Colorado Anschutz Medical Campus. In this program, Kiera focuses on discovery analysis for Esophageal Atresia and Tracheoesophageal Fistula (EA/TEF) using whole genome sequencing. Outside of her academic and research commitments, Kiera enjoys spending time with her friends and family, exploring nature, and reading.
Publications
In the News
- Children's Hospital Colorado, June 19, 2024, "Otitis Media in Kids with Down Syndrome | Children's Hospital Colorado (childrenscolorado.org)"
- Blog, Journal of Medical Genetics, July 25, 2020, “Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants”
- The Pathologist, Issue 52, page 10, Mar. 22, 2019, “Putting a bug in your ear"
- Reuters Health News, Nov. 8, 2018, “Genetic variants may be tied to otitis media risk”
- CU Anschutz Today, Oct. 25, 2018, “Researchers find gene that makes some susceptible to ear infections”
- Hearing Health Foundation, Oct. 25, 2016, “Can a Mutation Predict Ear Infections?”
- BCM News, June 29, 2015, “Rare gene variant associated with middle ear infections”
Former Lab Members
- Nam Lee, Oto T32 Resident, 2021-2024; current PGY 6/ R5
- Christina Elling, HMGGP PhD Student/Postdoc, 2019-2023; current Sequence Data Analyst at GeneDx
- Angelo Sumalde, MD-PhD Student, 2019-2020; current Resident in Otolaryngology-Head and Neck Surgery at the Philippine General Hospital
- Scott Hirsch, Oto T32 Resident, 2019-2021; current Pediatric Otolaryngology Fellow, Texas Childrens Hospital
- Erin Baschal, Instructor, 2018-2019
- Tori Bootpetch, PRA, 2016-2021; current Microbiologist in North Texas Regional Laboratory
- Matthew Steritz, PRA, 2016-2018; current Internal Medicine Physician at University of New Mexico