Theme 1
Molecular Circadian Clock
Foundational work from the lab helped define the mammalian clock at the
level of transcription factors and feedback architecture. This includes
discovery and characterization of BMAL1/MOP3, work on NPAS2 and related
PAS-domain clock components, and mechanistic studies of how core clock
factors regulate downstream transcription.
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Core clock transcription factors in mammalian systems.
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Feedback regulation and clock-controlled gene expression.
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Molecular links between oscillator structure and physiological output.
Theme 2
Circadian Biology of Clocks
The lab has used genome-scale experimental designs to define the breadth
of rhythmic transcription across tissues and organs. This work
established the mammalian circadian transcriptome as a large,
tissue-specific regulatory system rather than a narrow set of canonical
clock genes.
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High-resolution temporal profiling of circadian transcription.
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Multi-organ analysis of rhythmic gene expression across the mouse body.
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Functional genomics approaches to identify regulators and outputs of the
clock.
Theme 3
Computational Methods and Public Resources
A major part of the lab’s scientific footprint is methodological.
JTK_CYCLE, PSEA, MetaCycle, CYCLOPS, CYCLOPS2, and CircaDB were all
built to make rhythmic data more interpretable, more reproducible, and
more broadly usable by the field.
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JTK_CYCLE and MetaCycle for rhythmicity detection.
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PSEA for phase-structured pathway interpretation.
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CYCLOPS and CYCLOPS2 for recovering temporal order and addressing newer
integration problems in unordered human datasets.
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CircaDB as a public gene-expression database for rhythmic biology.
Theme 4
Circadian Medicine
Published human transcriptomics from the lab extended circadian biology
into translational settings. This work showed that time-of-day structure
can be recovered from human tissues at scale and can inform how
physiology, pharmacology, and clinical practice are interpreted.
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Human circadian transcriptomics using CYCLOPS.
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Published resources connecting rhythmic gene expression to medicine.
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Conceptual and empirical work on chronotherapy and timed treatment.
Theme 5
Human Genetics and Rare Disease
Through Human Genetics at Cincinnati Children’s, the lab also studies
circadian and sleep phenotypes in rare genetic disease. Published work
from this program includes Smith-Kingsmore syndrome, linking clinical
phenotyping to molecular and cellular analysis in a translational
genetics setting.
Current work in this area is also supported by the DLG4 SHINE
Foundation. Because SHINE-related studies are ongoing, the site links
the foundation here as a current funding and community partner without
describing unpublished results.
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Rare-disease sleep and circadian phenotyping in Human Genetics.
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Published work on Smith-Kingsmore syndrome in collaboration with
clinical and functional genomics investigators.
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Translational connections between genetic diagnosis, mechanism, and
time-dependent physiology.
Human
Genetics at Cincinnati Children’s ·
Published
Smith-Kingsmore syndrome study ·
Smith-Kingsmore
Syndrome Foundation ·
DLG4
SHINE Foundation
