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Jacqueline Lane, PhD












Irma Vlasac, Gregory Bormes, Elizabeth Do, Noah L. Fryou, Siena Gioia, Anne Kuan, Jennifer Lapan, David Oluwadara, the Pepper Team, Richa Saxena, Frank Scheer, Faraji Woodson, Jacqueline Lane*

Patient-centered Remote Clinical Study of Circadian Rhythm Disruption

I feel it is important to participate in the Women in Medicine and Science Symposium because there is power in community coming together to celebrate and lift up the research and work of other women across MassGeneralBrigham. There are many challenges to being a woman in STEM and academic research, therefore uniting and creating a network to bring attention to our research in invaluable. As a human genetics researcher focusing on rare diseases of the circadian system, I strongly believe in integrating diversity equity and inclusion into all parts of my research, the translational findings, and the team I support.


Circadian disruption occurs when your internal body clock is out of sync with your environment, increasing risk for cardiometabolic and psychiatric disorders. By studying circadian rhythm sleep-wake disorder (CRSWD) patients, we use extreme phenotypes to understand the genetic underpinnings of and treat disrupted circadian rhythms.


We surveyed 50 CRSWD patients to identify areas for improvement in research, diagnosis, and treatment. Concurrently, we conducted a remote, direct-to-participant study investigating the efficacy of at-home, self-directed dim-light melatonin onset (DLMO) collections to assess circadian disruption. We sent phenotyping kits to 11 individuals of varying chronotypes to complete two at-home DLMOs a week apart. 


Survey results indicate a need for more accessible diagnostics, home-based studies, and willingness to participate in home circadian phenotyping. Participants completed the at-home study with little staff intervention and high accuracy, determined by patient self-report and environmental monitors. We replicated previous findings of delayed circadian rhythm disorder patients, with and without delayed endogenous melatonin.


We implemented the first remote, self-directed circadian phenotyping study, addressing primary challenges of traditional circadian disruption measurement. Our findings will help establish a validated at-home dim-light melatonin assay that may be adapted to further research and clinical use in many disorders.