We are interested in finding and functionally characterzing genes involved in neurological disorders including deafness and ataxia and in behavioral and psychiatric diseases. 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. Once identified, we investigate the functional effects of the genetic variants in vitro and in model organisms in order to better understand behavioral and neurological disorders.
The genome project allowed large scale genetic studies, but also genome-wide studies of function, as in gene expression microarrays and proteomics, and more recently, next generation sequencing. By combining genetic, genomic, sequencing and functional studies and soon bioinformatic pathway analyses that also pull information from the literature, we identify genes involved in rare Mendelian disorders (deafness and ataxia) in families that we recruit here.
We also predict that to untangle genetic risk factors for psychiatric disorders and addiction, such a combined approach will be useful. For these studies we use either cell lines from patient and control blood samples, or postmortem brains, and fibroblasts can be induced to become neuronal using induced pluripotent stem cells. While primarily interested in human disorders, we are using mice as a model system when appropriate. Specifically, we are interested in identifying genetic risk factors for bipolar disorder, depression, and addiction. In our studies, 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, and high impulsivity and low executive function are risk factor involved in addiction. Once genetic factors have been identified, neuroimaging genetics can help explain HOW such variants act in the brain on the behavior.
Our research is highly collaborative, involves bench research as well as computers for analysis, and interactions with clinicians, psychologists, epidemiologists, statisticians and bioinformaticians as well as other geneticists.

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