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Epidemiology/Genetics Research Program

Director: Ann E. Pulver, Sc.D.

The Epidemiology/Genetics Research Program in Psychiatry has been studying schizophrenia in populations for over two decades. It began collecting clinical data in the 1980’s, developing The Maryland Epidemiology Sample (MES), a cohort of over 1600 psychotic patients from Maryland hospitals. This MES sample allowed the study of heterogeneity within schizophrenia and some subjects went on to participate in later genetic studies of schizophrenia using European–Caucasian families.

In the past 10 years, the research expanded to include not only these original families but also the study of schizophrenia and bipolar disorder in an Ashkenazi Jewish population. The Ashkenazim are a relatively genetically isolated population previously shown to be ideal for finding susceptibility genes for other common complex genetic diseases such as breast cancer, ovarian cancer, prostate cancer, and Parkinson’s disease. Over 1200 Ashkenazi individuals with a diagnosis of either schizophrenia, schizoaffective disorder, or bipolar disorder have volunteered to participate in our research.

Using DNAs from these large clinical samples, chromosomal regions for schizophrenia susceptibility on chromosomes 8p, 10q, 13q, and 22q have been identified via whole-genome studies. These target regions have all been replicated independently by other investigators at other institutions and follow-up studies have revealed statistical support for several biologically plausible schizophrenia candidate genes in each region.

For bipolar disorder, a candidate region on chromosome 18p was confirmed in the Ashkenazim with support for suspected parent-of-origin effects. Our large scale candidate gene studies using DNAs from Ashkenazi subjects with either a diagnosis of schizophrenia or bipolar disorder have identified genes with likely overlap in liability for both disorders.

This research program has been continuously  funded for over two decades by grants from the NIH and from private donations.