2026 Pilot Grant Awardee

Grant Awardee: Adrianna San Roman, PhD, Assistant Professor, Molecular Genetics & Microbiology, Duke University School of Medicine

Study Title: Modeling Respiratory Infection Susceptibility To Advance Hearing Loss Prevention Strategies In Turner Syndrome

Summary: Children and adults with Turner syndrome (45,X) experience hearing loss at much higher rates than the general population, making it one of the most common long-term health complications of the condition. Much of this hearing loss is linked to recurrent middle ear infections (otitis media), which often begin with infections of the upper respiratory tract. Although ear infections are typically treated with antibiotics or surgery, these approaches do not address the underlying biological reasons why individuals with Turner syndrome are more susceptible to infection. This study seeks to understand how having a single X chromosome influences the body's natural immune defenses in the respiratory tract and contributes to recurrent infections that may ultimately lead to hearing loss.

By defining how X chromosome dosage influences respiratory epithelial immunity, this study aims to uncover the biological mechanisms that place individuals with Turner syndrome at increased risk for recurrent ear infections and progressive hearing loss. The knowledge gained may lead to new strategies for identifying individuals at highest risk, developing preventive therapies that target the underlying causes of infection rather than its complications, and establishing laboratory models and biomarkers that can support future clinical trials focused on hearing preservation. Beyond Turner syndrome, this work may also provide broader insights into how sex chromosomes influence immune responses to respiratory infections in children and contribute to differences in susceptibility across the general population.

Study Design: Using a simple, non-invasive nasal swab, researchers will collect cells from the lining of the nose from children with Turner syndrome as well as comparison groups with two (46,XX) or three (47,XXX) X chromosomes. These cells will be grown into specialized laboratory models that closely mimic the human airway, creating a unique research platform to study how X chromosome dosage affects respiratory health. The cells will then be exposed to common bacteria responsible for recurrent ear infections and to influenza virus to examine differences in infection susceptibility, inflammatory responses, and immune signaling. Advanced gene expression analyses will be used to identify molecular pathways and biomarkers associated with increased susceptibility or protection from infection.