Instructor in Medicine
Brigham and Women's Hospital
Brigham and Womens Hospital
Sleep Medicine - BLI 438
221 Longwood Ave
Boston MA 02115
National Sleep Foundation Healthy Sleep Community Award (Harvard Work Hours, Health, Safety Group)
World Sleep Federation Poster Award
2011 - 2014
T32 Postdoctoral Fellowship, Training in Sleep, Circadian, and Respiratory Neurobiology
American Academy of Sleep Medicine Young Investigator's Forum
American Thoracic Society Abstract Scholarship
Sleep Research Society Abstract Merit Based Award
American Thoracic Society "The Best of Everything: Hot Topics in Sleep" Oral Presentation Selection
Sleep Research Network Travel Award
K01 Career Development Award
My career researching human sleep and circadian rhythms has included genome-wide association study (GWAS) meta-analyses of healthy and disordered sleep, molecular genetic analyses of circadian rhythms, physiological studies of shiftwork, and nationwide survey-based studies of medical doctors and police officers. I am presently an Instructor in Medicine, focused on defining subtypes and performing whole-genome and GWAS analysis of sleep apnea in humans.
My work prior to obtaining a Ph.D. involved major projects at Brigham and Women's Hospital (under Charles Czeisler, PI). I performed overnight studies of shift work using bright light therapy and fixed versus free sleep schedule counter-measures. I designed websites, databases, and analysis tools central to national web-based studies of sleepiness and errors in medical residents and police officers. Multiple papers were accepted into JAMA and NEJM. My Ph.D. work occurred from 2006-2010 at the University of Surrey under the direction of Drs. Simon Archer and Malcolm von Schantz. My dissertation topic, “Variation and Selection in Human Circadian Genes” focused on identification of diurnal preference polymorphisms. I also used bioinformatics and population genetics methodologies novel in the field of human chronobiology to identify and explore potential population-specific effects.
In 2011, I was awarded a NIH T32 postdoctoral fellowship to study with Susan Redline at Brigham and Women's Hospital and Harvard Medical School. This genetic epidemiological work has featured large throughput analysis methods such as cluster computing and 1000 Genomes-based imputation. I played an important role in prominent GWAS meta-analyses of self-reported sleep duration, including a first author CARe Consortium project that uncovered potential pleiotropy with an external schizophrenia GWAS. The majority of my effort was as the coordinating analyst for ongoing R01 and R35 projects investigating the genetics of obstructive sleep apnea (Susan Redline and Xihong Lin, Co-PIs). I assembled and harmonized the largest collection of genome-wide objectively measured sleep phenotypes currently available in the world, comprised of over 20,000 individuals. I was the lead author of the first genetic association study with sleep apnea at genome-wide significance, and have provided important contributions to the first and/or largest genetic analyses of the Apnea Hypopnea Index, sleeping oxygen saturation traits, and average apnea-hypopnea event duration to date.
In my first year as an Instructor, I was awarded an American Thoracic Society Foundation unrestricted grant to identify subtypes of sleep apnea from hundreds of available phenotypes through heritability and cluster analyses. I also began a K01 with mentorship from Shaun Purcell and Susan Redline focused on big data and whole genome analyses. I am the lead Sleep Traits working group analyst for the TOPMed whole-genome analysis consortium, with secondary efforts in several other working groups.
I seek to enhance the resolution and power of human genetic epidemiological studies of sleep through improved statistical methods, phenotyping, and genomic regulatory data. My long term goals are to leverage the power of electronic medical record-based genetic studies to identify loci; phenotypically characterize each locus using my assembled database; and physiologically characterize affected individuals in the laboratory to aid in the development of therapeutics.
The research activities and funding listed below are automatically derived from
NIH ExPORTER and other sources, which might result in incorrect or missing items.
to make corrections and additions.
Mar 15, 2017 - Feb 28, 2021
WHOLE GENOMIC CHARACTERIZATION OF SLEEP APNEA TRAITS AND COMORBID DISORDERS
(CADE, BRIAN EDMAND)
Mar 15, 2017 - Feb 28, 2021
Whole Genomic Characterization of Sleep Apnea Traits and Comorbid Disorders
Role: Principal Investigator
Jan 1, 2017 - Dec 31, 2017
American Thoracic Society Foundation
Resolving Heterrogeneity and Identifying Informative Traits of Sleep Apnea in Humans
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