Research

The Dias Lab is broadly interested in neurogenetic mechanisms of human brain development and degeneration. We aim to better understand the fundamental genetic and molecular mechanisms that shape the human brain and make us uniquely human across the lifespan.

Human Genetics:

We study fundamental genetic mechanisms, such as the role that short repetitive genomic elements, play in the human condition. We pilot challenging techniques directly in primary human cells and tissues, such as long read sequencing and single nucleus sequencing. In addition to these cutting-edge approaches, we strive to develop methodologies that do not require specialized expertise or equipment, in order to accelerate study of similar questions more broadly within the scientific community.

Neurologic Disorders

We also study genetically defined brain disorders, such as Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, dup15q syndrome, and TCF7L2-related neurodevelopmental disorder (TRND). We seek to characterize pathophysiology that underlie these uniquely human disorders. We focus on questions historically understudied, such as the role of the X chromosome and non-neuronal cell types in these disorders. We harness developmental context as a critical biological variable that impacts the expression of powerful germ-line genetic drivers, focusing on human cellular models.

Cellular Heterogeneity:

The brain is an amazingly complex and heterogeneous tissue and is not immediately accessible for study in the human condition. We are interested in studying the molecular perturbations associated with neurodevelopmental, neuropsychiatric and neurodegenerative disorders in different cellular subtypes in the human brain specifically. In order to do this, we are applying single cell genomic approaches on post-mortem human brain to identify cell-type and region-specific molecular changes related to brain function.

Collaborations:

Collaborative efforts are the only path forward to conduct truly transformative science. We collaborate with laboratories within and outside of our department and university. Within our laboratory, collaborative projects are the norm, and not the exception. We are always looking for new opportunities to develop creative lines of investigation.

Publications

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