sleep epidemiology, genetics & neurophysiology


Brigham & Women's Hospital, Harvard Medical School, Boston

Genome-wide association studies (GWAS) provide a powerful tool for mapping the genetic bases of complex traits. In past work, we've made several methodological and substantive contributions to the GWAS literature, including the PLINK software package and multiple applications in psychiatric genetics. Future goals include genetic studies in EEG-based studies, to shed light on the role of sleep oscillations in mediating genetic risk for psychiatric disease.

Areas of previous work in human genetics:

  • Polygenic models of complex disease
  • Copy number variation
  • Rare variants and sequencing studies
  • Geneset enrichment and integrative analyses
  • Ancestry and identity-by-descent
  • Pleiotropy in complex trait genetics
  • Genetic risk prediction
  • Twin studies and quantitative genetics

Psychiatric genetics projects and collaborations:

  • Psychiatric Genomics Consortium - the PGC is a large international consortium to pursue genome-wide analyses of common psychiatric disease including schizophrenia, bipolar disorder, autism, ADHD and major depressive disorder.
  • Bipolar Sequencing Consortium - the goal of the BSC is to identify genetic variants that influence risk of bipolar disorder, by bringing together rare variant sequencing studies from both population-based and family-based studies.
  • Swedish Schizophrenia Study
  • De novo mutation in schizophrenia - collaboration with researchers from University of Cardiff, Wales, the Stanley Center for Psychiatric Research and others, analysis of a family-based sample of schizophrenia patients from Bulgaria.
  • International Schizophrenia Consortium - in many ways a precursor to the PGC, the ISC involved researchers from over dozen institutions who collaborated to perform large-scale genome-wide studies of schizophrenia. We published two prominent manuscripts describing our primary work, on the roles of common SNPs (PubMed | PDF) and rare copy number variants (PubMed | PDF) in predisposing to the disease (media coverage: BBC, Independent, NPR and NY Times).