Margit Burmeister, Ph.D.
Professor of Human Genetics and Psychiatry
Research Professor, Molecular & Behavioral Neuroscience Institute
Co-Director, Bioinformatics Graduate Program
My laboratory's research is aimed at finding genes involved in neurological and psychiatric diseases as well as behavior in general. 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, seizures and behavioral abnormalities in mice and humans. For some of these, the function of the encoded protein is unknown, and we study such proteins. In contrast to Mendelian single gene defects, human behavior and risk for psychiatric illnesses 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. We use a combination of genetic, statistical, functional approaches and combine evidence bioinformatically in gene identification, both for heterogenous Mendelian disorders such as deafness and ataxia, and for complex disorders such as Bipolar Disorder and Alcoholism.
Villafuerte S, Heitzeg MM, Foley S, Yau WYW, Majczenko K, Zubieta JK, Zucker RA, Burmeister M: Impulsiveness and Insular activation during reward anticipation are associated with genetic variants in GABRA2 in a family sample enriched for alcoholism. Molecular Psychiatry, in press (available online since April 2011).
Karg K, Burmeister M, Shedden K, Sen S: The serotonin transporter promoter variant (5-HTTLPR), stress, and depression meta-analysis revisited: Evidence of genetic moderation. Arch Gen Psychiatry 68(5):444-54, 2011.
Schoen C, Emery S, Thorne M, Ammana H, Sliwerska E, Arnett J, Hortsch M, Hannan F, Burmeister M, Lesperance MM: Increased activity of diaphanous 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. Proc Natl Acad Sci U S A 107:13396-401, 2010.
Saunders EH, Scott LJ, McInnis MG, Burmeister M. Familiality and diagnostic patterns of subphenotypes in the National Institutes of Mental Health Bipolar sample. Am J Med Genet B Neuropsychiatr Genet. 2007 May 24; [Epub ahead of print]
Sliwerska E, Meng F, Speed TP, Jones EG, Bunney WE, Akil H, Watson SJ, Burmeister M. SNPs on chips: the hidden genetic code in expression arrays. Biol Psychiatry. 2007 Jan 1;61(1):13-6.
Bueller JA, Aftab M, Sen S, Gomez-Hassan D, Burmeister M, Zubieta JK. BDNF Val66Met allele is associated with reduced hippocampal volume in healthy subjects. Biol Psychiatry. 2006 May 1;59(9):812-5. Epub 2006 Jan 25.
Li J, Burmeister M. Genetical genomics: combining genetics with gene expression analysis. Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R163-9.
Sen S, Burmeister M, Ghosh, D: Meta-Analysis of the Association Between a Serotonin Transporter Promoter Polymorphism (5-HTTLPR) and Anxiety-Related Personality Traits. Amer. J. Med. Genet. Neuropsychiatric Genetics, 127B1: 85-89, 2004.
Bomar JM, Benke PJ, Slattery EL, Puttagunta R, Taylor LP, Seong E, Nystuen A, Chen W, Albin RL, Patel PD, Kittles RA, Sheffield VC, Burmeister M: Mutations in a novel CRAL-TRIO domain encoding gene cause human Cayman Ataxia and ataxia/dystonia in the jittery mouse. Nature Genetics 35: 264-269, 2003.
Sen S, Nesse RM, Stoltenberg SF, Li S, Gleiberman L, Chakravarti A, Weder AB & Burmeister M: A BDNF Coding Variant is Associated with the NEO Personality Inventory Domain Neuroticism, a Risk Factor for Depression. Neuropsychopharmacology 28: 397-401, 2003.
Seong E, Seasholtz AF, Burmeister M: Mouse models for psychiatric disorders. Trends in Genetics 18: 643-650, 2002.