Genes, Development And Behavior
Department of Translational Neuroscience
Utrecht, The Netherlands

Peter Burbach

Position: Professor of Molecular Neuroscience
E-mail: j.p.h.burbach@umcutrecht.nl
Phone: (+31) (0)88 75 68848
Phone secretariat: (+31) (0)88 75 68810

Brain disorders like autism, ADHD and mental retardation involve neurodevelopmental defects and are highly genetic in origin. I am interested in molecular mechanisms of brain development, and want to know what molecular networks are involved in developmental processes affected in autism.

RESEARCH

Aims:

Our aim is to understand the molecular and cellular mechanisms that underlie neurodevelopmental brain defects. We do research into the function of a selected class of genes responsible for neurodevelopmental defects in man, specifically in autism. These are the contactins. We focus on the molecular pathways in which contactins operate and on consequences of contactin loss-of-function on development of specific neural systems in mouse knock-out models.

Experimental strategy and key results:

We have characterized proteins that interact with contactins and investigate the biological significance of the interactions in cell lines, neuronal cultures and in vivo. We focus on the thalamocortical tract as a neural system in which contactins are expressed and have biological functions. Impairments in this system resulting from gene ablation are currently emphasized. These experiments involve neuroanatomical and morphological analyses in vivo using histochemical techniques as  well as in vitro systems.

READING

1.Burbach JPH. AUTISM. Unraveling a pathway to autism. Science 2016 351, 1154-1154.
Summary: http://science.sciencemag.org/cgi/content/summary/351/6278/1153?ijkey=AWOFz3PZxB//g&keytype=ref&siteid=sci
Reprint: http://science.sciencemag.org/cgi/rapidpdf/351/6278/1153?ijkey=AWOFz3PZxB//g&keytype=ref&siteid=sci
Full Text: http://science.sciencemag.org/cgi/content/full/351/6278/1153?ijkey=AWOFz3PZxB//g&keytype=ref&siteid=sci

2: Zuko A, Bouyain S, van der Zwaag B, Burbach JPh. Contactins: structural aspectsin relation to developmental functions in brain disease. Adv Protein Chem Struct Biol. 2011 84:143-180.

3: Burbach JPH. Neuropsychiatric connections of ADHD genes. Lancet. 2010 376, 1367-1368.

4: Burbach JPH, van der Zwaag, B. Contact in the genetics of autism and schizophrenia. Trends Neurosci. 2009 32:69-72.

 

PUBLICATIONS