Vladimir Vacic

Understanding the molecular relationships between genetic and functional
variation

My interests and expertise are in the areas of quantitative human genetics, functional
genomics and systems biology. I believe that complex diseases can be fully understood
only when human genetics is interpreted in its molecular context. In my work I aim
to integrate genetic, epigenetic, expression and functional data with the goal of
understanding the molecular relationships between genetic and functional variation.
My current research projects investigate regulatory variation using allele-specific
effects (expression and histone modification) and the effects of missense mutations
in intrinsically disordered protein regions, which have relatively few evolutionary
constraints.

The clinical focus of my work is on genetics and systems biology of psychiatric
and neurological disorders. My key contribution to the area so far was to identify a
duplication within and upstream of the VIPR2 gene, which significantly increases risk
of schizophrenia. This finding is particularly exciting because it implicates a specific
signaling pathway that can potentially be targeted by drugs. I have studied the effects
of the 16p11.2 CNV, a major causal variant in autism and schizophrenia, on gene
expression and identified a developmental gene affected in trans which contributes to
the observed phenotypes. I am currently the genetics lead on a multicenter study of
Parkinson’s disease in Ashkenazi Jews.

Prior to joining Columbia, I completed a Ph.D. in Computer Science at the University of
California, Riverside and a postdoctoral fellowship at the Stanley Institute for Cognitive
Genomics, Cold Spring Harbor Laboratory.