معرفی
Clement Chow is an Associate Professor of Human Genetics at the University of Utah, holding a primary appointment within the Department of Human Genetics and an affiliation with the Molecular Biology Program. He leads an active research laboratory focused on understanding how genetic variation influences disease outcomes and therapeutic responses.
Education:
- B.A. – Cornell University
- Ph.D. – University of Michigan
Research Interests:
Dr. Chow’s laboratory integrates Drosophila genetics, mouse population genetics, and functional genomics to dissect the impact of natural genetic variation on human disease. Core themes include:
- Precision Medicine & Rare Disease: Using Drosophila and mouse models to uncover genetic modifiers that explain variable expressivity and penetrance in Mendelian disorders such as NGLY1-deficiency, DPAGT1-CDG, PIGA-CDG, and retinitis pigmentosa.
- ER Stress Biology: Mapping the genetic architecture of the endoplasmic reticulum (ER) stress response across genetically diverse mouse strains and Drosophila lines to understand how ER stress variability influences disease.
- Evolutionary Genetics: Exploring evolutionary rate covariation among glycosylation pathways and investigating how disease genes co-evolve and modify each other.
Research Trends in Recent Publications (2022–2025):
His most recent work has converged on three major areas: (1) CRISPR- and Drosophila-based modifier screens to identify actionable therapeutic targets for rare congenital disorders of glycosylation; (2) transcriptomic and functional validation of natural genetic variants (e.g., SEL1L, CNTN2, DPM1) that modulate ER stress and disease severity; and (3) rapid patient-specific Drosophila models enabling drug-repurposing screens with FDA-approved compound libraries.
Scientific Awards & Honors:
No specific awards are listed in the provided text; however, his sustained publication record in high-impact journals (e.g., Nature Reviews Genetics, PNAS, Genetics, PLOS Genetics, Cell Reports) attests to significant recognition within the fields of human genetics and rare disease research.
Laboratory, Teams & Collaborations:
Dr. Chow runs the Chow Lab at the University of Utah, which is part of the broader bioscience graduate programs including the Molecular Biology PhD Program. The lab collaborates closely with clinicians for patient sample acquisition, with bioinformaticians for large-scale eQTL analyses, and with core facilities for genomics and drug screening. Active translational partnerships include the Utah NeoSeq Project, which delivers rapid genomic diagnostics to neonatal intensive care units.
