October 1, 2007

CCGS/Genetics Professor Pat Sullivan recently received a three-year $7M grant from the National Institute of Mental Health (NIH) for a large-scale association study to identify genetic factors that contribute to schizophrenia, a devastating neuropsychiatric illness whose etiology remains unknown despite considerable study.  Sullivan has assembled an internationally recognized group of researchers who will be instrumental in accomplishing the goals of this ambitious project.  Collaborators include Christina Hultman, Paul Lichtenstein and Niklas Langstrom at the Karolinska Institutet in Stockholm, and Pamela Sklar, Ed Skolnick, Mark Daly, David Altshuler, and Shaun Purcell at Harvard/MIT Broad Institute.

Currently, there are multiple positive and plausible genetic links for schizophrenia, but none meets a rigorous definition of proof.  There is considerable uncertainty about which of the findings in the literature represent true findings upon which to build the next generation of schizophrenia research. Sullivan hopes to move toward a solid empirical foundation by unambiguously identifying the responsible genes. The researchers plan to collect thousands of schizophrenia cases and well-matched controls ascertained through high-quality Swedish national registries. Their specific aims are:

  1. To establish a national, population-based sample of ~29,000 living individuals who meet a rigorous case definition for schizophrenia with both parents of Swedish ancestry.
  2. To obtain informed consent and biobank DNA samples from ~7,000 cases and ~7,000 matched controls.  A variety of data will be collected from these cases including birth records, education, neurocognitive data, IQ, and family history.
  3. To rigorously evaluate candidate genes for schizophrenia by genotyping SNPs (single-nucleotide polymorphisms) within these genes, and in some cases, resequencing entire transcripts to search for additional variants.

This work has several notable features including its exceptional size, availability of prospective risk-factor data, and explicit treatment of the problems of association studies. The research team is committed to a collaborative, open-source research environment.  All phenotypes, genotypes, and DNA samples will be made available to the wider research community.