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Mechanisms of Brain Morphogenesis and Pathogenesis


Structural Brain Disorders

We investigate the biology of genes newly implicated in human cortical development through gene discovery at the Yale Program on Neurogenetics. For each of these novel genes, we generate and characterize relevant model organisms and patient-derived stem cell and cortical organoid models, employing cellular, molecular, biochemical, and omics approaches.

Cerebral Cavernous Malformations (CCM)

Together with the Gunel laboratory, we are investigating the biology of Ccm3, a gene implicated in the pathogenesis of CCM, a monogenic cerebrovascular disorder. We have generated a mouse model that develops vascular lesions highly similar to human cavernomas; its study has led to the identification of cell autonomous as well as cell non-autonomous functions of CCM3 in vascular and neural development, and has unraveled an important role of this protein in the neurovascular unit.

Notch Lineages in the CNS

The Notch signaling pathway is an evolutionarily conserved cell interaction mechanism that is active in a wide range of organisms and tissues, is associated with early lineage decisions, and affects CNS development at many different levels, including neuronal progenitor maintenance, cell fate decisions between neuronal and glial lineages, terminally differentiated neuron behavior, as well as patterning of cellular fields. We are investigating cellular lineages that depend on Notch activity in the developing and adult brain by utilizing a unique set of transgenic mice generated in the Artavanis-Tsakonas laboratory.

CADASIL

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy is the most common monogenic form of ischemic cerebral small-vessel disease. CADASIL is associated with highly stereotypical mutations in the extracellular domain of the Notch 3 receptor. Working in collaboration with the Artavanis-Tsakonas laboratory we are characterizing transgenic mouse models that parallel remarkably the human condition.