Schwab Lab
Principal Investigator: Richard J. Schwab
Institution: University of Pennsylvania (Philadelphia, PA)
Primary Subfield: Genetics/Genomics
Recruitment Status: ✅ Hiring Postdocs
Research Focus
ABSTRACT The overall objective of Project 01 is to improve our ability to identify genetic factors relevant to OSA by studying upper airway anatomy and OSA extreme phenotypes. There are known anatomic risk factors (reduced craniofacial skeleton and enlarged soft tissue structures, including tongue fat) for OSA that have been shown to be heritable. We postulate that certain OSA genetic risk variants operate via changes in anatomy, leading to heterogeneous and extreme OSA. A foundational aspect of this hypothesis is that studying genetic associations with intermediate anatomical phenotypes known to cause OSA will facilitate identification of genetic factors in the presence of heterogeneous etiologies. To address the overarching hypothesis, we have three Specific Aims. In Aim 1 we apply automatic, large-scale, high-throughput and advanced machine-learning techniques to clinically-obtained MR (magnetic resonance) and CT (computed tomography) images of the head and neck to quantify upper airway anatomical risk factors for OSA in patients with linked biobank data. Using these phenotypes, we will then perform genome-wide association studies (GWAS) to identify variants related to anatomy w…
Active NIH Awards
- 5P01HL160471-04: Genetics of Extreme Phenotypes of OSA and Associated Upper Airway Anatomy (2026)
- 5R01HL176920-02: Improving understanding of sleep apnea pathogenesis using novel imaging techniques during sleep (2026)
- 1R01HL176920-01A1: Improving understanding of sleep apnea pathogenesis using novel imaging techniques during sleep (2025)
- 5P01HL160471-03: Genetics of Extreme Phenotypes of OSA and Associated Upper Airway Anatomy (2025)
- 5P01HL160471-02: Genetics of Extreme Phenotypes of OSA and Associated Upper Airway Anatomy (2024)
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