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Margit Burmeister

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Primary Appointment: Molecular & Behav Neurosc Inst
Primary PIBS Dept.: Bioinformatics
Other PIBS Depts.: Human Genetics, Neuroscience
PubMed Name: Burmeister M
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  We are interested in finding genes involved in neurological and psychiatric diseases as well as behavior in general. In contrast to Mendelian single gene defects, human behavior and risk for psychiatric illness such as depression and alcoholism are determined by a complex interaction of environmental and multiple genetic risk factors. With the Human Genome sequenced, unprecedented numbers of genetic variants identified, and novel technologies that allow the study of genetic variants, untangling these risk factors is now possible and has started in my laboratory.

Specifically, we search for risk factors for bipolar disorder in several larger collaborations. In addition, we also search for genetic variants that influence traits related to psychiatric disorders: For example, high scores on the personality domain “neuroticism” are indicative of increased risk for depression. Thus, we search for association between genetic variants in candidate genes for depression with neuroticism in a large population sample. Similarly, impulsivity and low executive control functions are indicators of increased risk of substance abuse. We genetically analyze a large sample of families at high risk for substance abuse. We are also interested in drug response of subjects with depression or bipolar depression.

In a large collaboration, we combine genetic with microarray expression analysis of postmortem brains of subjects that died with depression and control subjects. We determine genetic variants that influence gene expression in brains, and are analyzing millions of SNPs for association with bipolar disorder.

While primarily interested in human disorders, we are using mice as a model system when appropriate. We use genetic methodologies and have identified specific single gene mutations that cause ataxia, deafness, seizures, and behavioral abnormalities in mice and humans. For some of these, the function of the encoded protein is unknown, and we are starting to clarify this function. We collaborate with clinicians, psychologists, epidemiologists, statisticians and bioinformaticians as well as other geneticists in these endeavors.