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Jacqueline Lane, Ph.D.


I strongly believe in the advancement of human health by using genomics to answer questions about basic biology and neuropsychiatric disease risk. I am excited to establish a successful collaborative and interdisciplinary research program marrying genetics with functional approaches to address important issues in human health related to sleep and circadian biology.

Circadian rhythms regulate human behavior and physiology within the 24hr day. Dysregulation of those rhythms are associated with sleep disorders, cognitive and physical performance, cancer, and chronic disease, however, little is known about the link between human circadian rhythms and health and physiology. We will identify novel genetic factors for circadian rhythms by sequencing extreme circadian rhythm disorder patients. For this purpose, we are assembling a new cohort study. Circadian rhythm disorders are inherited sleep disorders of the circadian system, which present as extremely shifted or irregular sleep timing and current treatments are limited, difficult to implement, and ineffective. Initial family-based genetic studies of circadian rhythm disorders implicated mutations in genes involved in the core molecular circadian clock (PER2, PER3, CSNK1D). In our study, we will extend the interrogation of circadian rhythm disorder causative mutations beyond the few family-based studies by recruiting a new cohort of circadian disorder patients, with the hypothesis that patients with extreme circadian rhythm disorders harbor rare loss-of-function mutations in core components of the circadian clock. We will test this by establishing a novel at-home testing based extreme circadian disorder cohort and identifying new genes for circadian rhythm disorders by sequencing and analyzing the exome of circadian rhythm disorder patients.

Ultimately, this work will identify new causal genetic factors for circadian rhythm disorders and elucidate biological pathways underlying circadian regulation. These findings will benefit circadian disorder patients by allowing for the development of novel therapeutics for rare circadian rhythms disorders, increasing our understanding of the basic mechanisms of circadian biology in humans, and ultimately shedding light on how circadian rhythm dysregulation predisposes to associated chronic diseases.

The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. R35GM146839 (LANE, JACQUELINE MARIE) Sep 20, 2022 - Jul 31, 2027
    Genetics of human circadian rhythms: using sequencing, novel phenotyping methods, and functional assays to move towards a deeper understanding of circadian mechanisms
    Role: Principal Investigator
  2. K01HL136884 (LANE, JACQUELINE MARIE) Mar 5, 2018 - Feb 28, 2023
    Genetic and molecular basis of circadian rhythm disorders
    Role: Principal Investigator
  3. F32DK102323 (LANE, JACQUELINE MARIE) Feb 1, 2015 - Jan 31, 2017
    Impact of genetic variants on sleep timing and type 2 diabetes risk
    Role: Principal Investigator

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.