The main objective of our lab is to identify and investigate novel molecular bases of cellular recognition that control cell fate and circuit assembly during human development and disease

 

Individuals with rare neurodevelopmental disorders present cognitive impairment accompanied by lifelong deficits; yet remarkably little is known about their neurological basis. Thus, it is imperative to uncover the genetic causes leading to these conditions as well as to begin to decipher the pathogenic mechanisms of disease causing gene variants.

 

By coupling human genetics, next generation sequencing, and disease modeling, we are elucidating molecular and cellular pathways that when go awry contribute to neurodevelopmental disorders. We use induced pluripotent stem cells (iPSCs) from patients as well as CRISPR edited iPSC lines to generate neural progenitors, neurons, and forebrain _­organoids predisposed to neurodevelopmental disorders. We complement this approach with mouse models when available. Characterization of these models helps elucidate the mechanisms of disease of a variety of brain connectivity defects and lays the groundwork for the development of new therapeutic approaches and personalized medicine.