Margit Burmeister, Ph.D.
Research Professor, MBNI
Professor, Department of Psychiatry
Professor, Department of Human Genetics
Associate Chair and Professor, Department of Computational Medicine & Bioinformatics
Co-Director, Bioinformatics Graduate Program

5061 BSRB
109 Zina Pitcher Place
Ann Arbor, MI 48109-2200

margit@umich.edu

734-647-2186

Current Research Interests:

Genes of Brain Disorders

We are using genetic information to find the genes involved in brain disorders, then dissect the disease process. We have identified deafness and other neurological disorder genes and now focus on ataxias as well as psychiatric diseases and behavior.

There are about 100 known ataxia genes, some of which our lab discovered. Our pipeline starts with recruitment of families with rare disorders, then combines genetic (linkage) information with genome-wide gene expression and next generation sequencing. By combining these approaches, we can identify genes involved in ataxias, and are actively recruiting additional families with rare neurological disorders.

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, using genome-wide association studies (GWAS) and next generation sequencing. For most complex disorders, considering the environment as well as the genetic susceptibility is essential to fully understand their function.

With regard to depression, we are studying some known environmental factors such as stress. A former student and now colleague, Srijan Sen, uses the medical internship as a specific, predictable stressor (https://www.srijan-sen-lab.com/intern-health-study). We are collaborating with him in genetic studies, and have expanded this study to several Chinese Universities. I spend several months each year teaching in China and also have several active collaborations.

We collaborate with clinicians, psychologists, epidemiologists, statisticians and bioinformaticians as well as other geneticists in these endeavors.

• Co-Director, Bioinformatics graduate program, Center for Computational Medicine and Bioinformatics
• Faculty member of interdisciplinary graduate programs: Neuroscience, Cell & Molecular Biology.
• Diplom (Master) in Biochemistry, Free University of Berlin and Weizman Institute of Science, Rehovot, Israel.
• Ph.D., European Molecular Biology Laboratory (EMBL) and University of Heidelberg.
• Postdoctoral Fellow, University of California San Francisco.

Honors and Awards:

Distinguished Professor, Bio-X Center, Shanghai Jiao Tong University, China

Michael Weston Visiting Professorship, Weizmann Inst. of Science, Rehovot, Israel

Fellow of the "Studienstiftung des Deutschen Volkes" (German Phi Beta Kappa Equivalent).

Postdoctoral Fellowship from the German Academic Exchange Committee (DAAD).

NARSAD Distinguished Investigator Award 2008 and many earlier NARSAD awards

Klingenstein Fellowship Award in the Neurosciences.

Alexander von Humboldt Foundation Fellowship for Sabbatical in Berlin, Germany.

EBS-MBNI Teaching Award 2016

Selected Publications:

Fang Y, Scott L, Song P, Burmeister M, Sen S.
Genomic Prediction of Depression Risk and Resilience Under Stress
Nat Hum Behav. 2020 Jan; 4(1):111-118.

Caglayan AO, Gumus H, Sandford E, Kubisiak TL, Ma Q, Ozel AB, Per H, Li JZ, Shakkottai VG, Burmeister M.
COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration.
Cerebellum. 2019; 18(3):665-669.

Yan H, Helman G, Murthy GS, Ji H, Crawford J, Kubisiak T, Bent SJ, Xiao J, Taft RJ, Coombs AA, Wu Y, Pop A, Li D, de Vries LS, Jiang Y, Salomons GS, van der Knaap M, Patapoutian A, Simons C, Burmeister M, Wang J and Wolf NI.
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
Am J Hum Genet. 2019; in press.

Li HD, Bai T, Sandford E, Burmeister M, Guan Y.
BaiHui: cross-species brain-specific network built with hundreds of hand-curated datasets.
Bioinformatics. 2019; 35(14):2486-8.

Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M.
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Ann Neurol. 2018; 83(6):1075-1088.

Trucco EM, Villafuerte S, Burmeister M, Zucker RA.
Beyond risk: Prospective effects of GABA Receptor Subunit Alpha-2 (GABRA2) × Positive Peer Involvement on adolescent behavior.
Dev Psychopathol. 2017 Aug; 29(3):711-724.

Kim M, Sandford E, Gatica D, Qiu Y, Liu X, Zheng Y, Schulman BA, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takats S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M.
Mutation in ATG5 Reduces Autophagy and Leads to Ataxia with Developmental Delay.
eLife. 2016 Jan 26; 5. pii: e12245.

Liu C, Saffen D, Schulze TG, Burmeister M, Sham PC, Yao Y-G, Kuo P-H, Chen C, An Y, Dai J, Yue W, Li MX, Xue H, Su B, Chen L, Shi Y, Qiao M, Liu T, Xia K, Shugart YY.
Psychiatric genetics in China: achievements and challenges.
Molecular Psychiatry. 2016 Jan; 21(1):4-9.

Burns R, Majczenko K, Xu JS, Peng W, Yapici Z, Dowling JJ, Li JZ, Burmeister M.
Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.
Neurology. 2014; 83(23):2175-82.

Villafuerte SM, Trucco EM, Heitzeg MM, Burmeister M, Zucker RA.
Genetic variation in GABRA2 moderates peer influence on externalizing behavior in adolescents.
Brain Behavior. 2014; 4(6):833-40.

Sandford E, Burmeister M.
Genes and Genetic Testing in Hereditary Ataxias.
Genes (Basel). 2014 Sep; 5(3):586-603. (Invited, peer reviewed review for Genome Anniversary)

Villafuerte S, Strumba V, Stoltenberg S, Zucker RA, Burmeister M.
Impulsiveness mediates the association between GABRA2 SNPs and lifetime of alcohol-related problems.
Genes, Brain & Behavior. 2013; 12(5):525-31.

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. 2012; 17(5):511-9.

Li MD, Burmeister M.
New insights into the genetics of addiction.
Nat Rev Genet. 2009 Apr; 10(4):225-31.

Burmeister M, McInnis MG, and Zoellner S.
Psychiatric Genetics - Progress Amid Controversy.
Nat Rev Genet. 2008; 9:527-540.

Links to additional information about the work of Dr. Burmeister.

Department of Human Genetics, University of Michigan

Bioinformatics Graduate Program

Figure 1: Pipeline for Identification of Rare Disorder genes used in the lab.

Figure 2: Multiple risk factors for depression

Depression is thought to be caused by a combination of genetic factors, early experiences and stressful life events. Instead of comparing depressed subjects and controls, research on the genetics of personality can get at genetic predisposition genes for depression even while studying a general population sample.
(from: http://www.med.umich.edu/genetics/faculty/burmeister.htm)

Figure 3: Psychiatric disorders overlap and might be extremes of personality traits.

Genetic vulnerabilities for psychiatric disorders are shown as emerging from the extreme end of normal population variations of personality, illustrated as different background shades of mood, anxiety, cognitive processing and volition. Genetic factors affecting levels of these underlying traits, in interaction with additional genetic and environmental factors, can lead to psychiatric disorders — shown here are bipolar disorder, schizophrenia, depression and anxiety disorders — the symptoms and genetic risk factors of which are in part unique and in part overlapping. Because not all disorders can be covered in two dimensions, interactions and overlaps exist in many more dimensions than can be represented here.