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Research Projects

Re-Establishing DRD2 as a Risk Gene for Schizophrenia: Haplotype Mapping and Family Based Association Analysis

  • PI: Stephen J. Glatt
  • Samples: 1214 affected subjects and 1194 unaffected first-degree relatives of affected subjects from 616 Han Chinese families from Taiwan.
  • Description: The goal of this study is to conduct the largest known family-based association analysis of all functional and haplotype-tagging polymorphisms in the DRD2 gene in schizophrenia to determine if the evidence for significant association we previously observed in case-control studies (Glatt et al., 2003; Glatt and Jonsson, 2006) can be replicated. Once associated variants are identified, they will be evaluated in a battery of functional genomic paradigms to determine how these DNA sequence variations translate into deleterious consequences of relevance to schizophrenia.

Biomarkers of Autism at 12 Months: From Brain Overgrowth to Genes

  • PI: Stephen J. Glatt
  • Samples: 270 12-month-old children, divided equally among children at risk for an autistic spectrum disorder, children at risk for other developmental disorders, and typically developing children.
  • Description: The goal of this study is to identify gene expression-based biomarkers for autism in peripheral blood samples from children at risk for the disorder. At 12 months of age, children visiting their pediatrician for a well-baby checkup will be screened for early behavioral signs of autism or other developmental disorders. These children, along with a comparison cohort of typically developing children, will be evaluated on a battery of behavioral, neuroimaging, and genetic tests, including gene expression profiling. Longitudinal analyses will be performed on serial samples of blood from these children at 12 months, at 24 months when clinical diagnoses will be more concrete, and at 36 months after at-risk children have received 12 months of intensive behavioral intervention.

Expanding Rapid Ascertainment Networks of Schizophrenia Families in Taiwan

  • PI: Stephen J. Glatt
  • Samples: 15,000 individuals from 5,000 Han Chinese families in Taiwan who are affected with schizophrenia.
  • Description: The goal of this study is to quickly ascertain parent-child trios with at least one offspring who is affected with schizophrenia. The DNA collected from all family members will be genotyped for genome-wide association analysis, wherein we aim to detect both common and rare variants that increase susceptibility to the illness. Aside from single nucleotide polymorphisms, we will also evaluate the contribution of copy-number variations to disease liability. Analyses will also be performed to determine if gene-gene and gene-environment interactions are operating to increase risk for the disorder in the sample.

Longitudinal Family/Molecular Genetic Study to Validate Research Domain Criteria

  • Co-PIs: Stephen Faraone and Stephen J. Glatt
  • Samples: Subjects between the ages of 6 and 12 years and their families are being ascertained from Syracuse-area clinics regardless of their diagnoses; as long as a child is identified as being in need of psychiatric services, they are qualified to become a subject. We are also ascertaining a sample of children who are developing typically with no psychiatric, behavioral, or neurodevelopmental issues, along with their families, to serve as a comparison group.
  • Description: This study is a part of a much larger Research Domain Criteria (RDoC) initiative to identify the most elemental units of analysis relevant to psychiatric disorders and to utilize them as a framework to study psychiatric disorders, without assuming existing diagnostic nomenclature is biologically relevant.  The premise of this study is to validate specific RDoC constructs, to determine if those constructs are familial and if they persist over time. We will also seek to discover genetic associations to RDoC constructs within the families studied.

We also have several pilot projects underway involving behavioral and transcriptomic analyses of animal models of autism spectrum disorders, transcriptomic and proteomic analyses of postmortem brain tissue samples from patients with schizophrenia or bipolar disorder, and secondary analyses of existing phenotypic, transcriptomic, and genetic association datasets of individuals and families with autism spectrum disorders, schizophrenia, bipolar disorder, and substance use disorders, among other projects. If you are interested in learning more about these projects, please contact us. If you are interested in participating in our studies, joining our team, or supporting our research, please learn more on our Participate page.