Carlo Colantuoni PhD

Assistant Professor of Neurology

ccolantu@jhmi.edu
Telephone Number: 410-493-1439


Areas of Research

Graduate Program Affiliations

Neuroscience Training Program

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    The use of global transcriptional and epigenetic trajectories helps us connect molecular mechanisms during in vivo brain development to those during in vitro differentiation. Defining a common transcriptional landscape across these systems will enable us to develop meaningful, mechanistic connections between the in vivo observations and the in vitro experimental systems. This figure is a global view of transcriptional change during neural development in the human brain at left and in differentiating human pluripotent cells at right. Each point represents a single sample at a particular age or time point: a two-dimensional representation of tens of thousands of gene-expression measures. We use genome-wide data from postmortem brain tissue to characterize canonical molecular trajectories during in vivo human brain development. With novel computational tools, we use lineage-specific transcriptional signatures from differentiating pluripotent cells as a lens through which we can observe specific dimensions of temporal dynamics in the in vivo brain data, observing the rise and fall of particular progenitors and cell types in the development of the human brain. To begin making the functional connection of individual genetic variation with molecular phenotypes and eventually biological mechanism, we work in close collaboration with the stem cell group to explore the earliest cellular steps in human development. Using multiple cell lines derived from diverse genomes, we aim to elucidate the nature of individual variation in the context of fundamental mechanisms in human cellular development.

Functional Genomics of Human Brain Development

My group explores human brain development using genomic technologies and novel bioinformatic approaches to connect dynamics of in vivo development with experimental in vitro differentiation systems. Our goal is to both define fundamental mechanisms in the construction of the human brain and chart the paths of individual humans through this developmental space. Bringing recent genetic advances in neuropsychiatry and neurodegeneration to the intersection of these perspectives, we aim to elucidate molecular mechanisms of risk common complex human brain disorders.


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