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The genomic and epigenomic landscape of otosclerosis

Award Number: R01DC021686
ORGANIZATION: NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 03/12/2025
PERIOD OF PERFORMANCE END DATE: 01/31/2030

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The genomic and epigenomic landscape of otosclerosis - SUMMARY Otosclerosis is an age-related bone disorder characterized by pathological remodeling in the otic capsule of the temporal bone, leading to stapedial fixation and hearing loss. The disease is typically bilateral, progressive, and commonly affects women more than men, with onset usually occurring in the 3rd or 4th decade of life. Although conductive hearing loss can be managed through hearing aids or stapes microsurgery, other clinical features such as sensorineural hearing loss, tinnitus, and vertigo pose greater challenges in treatment. The pathophysiology of otosclerosis it still poorly understood. The otic capsule has a uniquely low bone turnover rate, a process that is disrupted in otosclerosis for unknown reasons. Genetic factors play a critical role in the disease's development, and our preliminary findings, along with others', suggest a genetic overlap with other skeletal disorders. Additionally, while epigenetic mechanisms have been strongly implicated in other aging- related bone diseases, research on their role in otosclerosis is even more limited. Our proposal aims to uncover the molecular basis of otosclerosis by utilizing advanced genomic and epigenomic techniques on a large cohort of unrelated otosclerosis cases and families. This previously gathered cohort, resulting from a long-standing coordinated endeavor by the research team, provides an exceptional opportunity to investigate the molecular aspects of otosclerosis and identify novel genes implicated in the disease. To achieve our aims, we will: 1) Analyze ultrarare and rare genomic variants in a set of large families segregating otosclerosis via genome sequencing. 2) Study common and rare genomic variants in a large cohort of otosclerosis cases and controls via a genome-wide association study using a blended genome-exome sequencing strategy . 3) Identify epigenetic factors implicated in otosclerosis via genome-wide methylation profiling in cases and controls and multi-omics integration of genetic and epigenetic data. All aims are independent and complementary. By the end of this study, we expect to have gained a great insight into the molecular background of otosclerosis. Our results may aid in the development of therapeutic interventions, diagnostic screening, patient management, and family counseling.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $521,442 )
2026	2026	UNIVERSITY OF ARIZONA	845 N PARK AVE RM 538	TUCSON	AZ	85721	PIMA	USA	Research Related to Deafness and Communication Disorders	000	2	5/7/2026	NON-COMPETING CONTINUATION	$521,442
														Subtotal = $521,442

Issue Date FY: 2025 ( Subtotal = $533,978 )
2025	2025	UNIVERSITY OF ARIZONA	845 N PARK AVE RM 538	TUCSON	AZ	85721	PIMA	USA	Research Related to Deafness and Communication Disorders	000	1	3/12/2025	NEW	$533,978
														Subtotal = $533,978

Grand Total All Awards = $1,055,420

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The genomic and epigenomic landscape of otosclerosis

Award Number: R01DC021686

ORGANIZATION: NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 03/12/2025

PERIOD OF PERFORMANCE END DATE: 01/31/2030

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