About our research

Our lab is dedicated to uncovering how genetic mutations associated with neurodevelopmental disorders disrupt brain function.

Our ultimate goal is to bridge the gap between genetic mutations, synaptic and circuit-level dysfunction, providing insights that can guide therapeutic strategies for individuals affected by these disorders.

Target Genes

Some of our current ‘favorite’ gene targets are those linked to specific neurodevelopmental syndromes, including:

Research Focus

We focus in particular on synaptic genes and chromatinopathies, as these represent some of the most frequently mutated genes in affected individuals. Through our research, we investigate how mutations impair synaptic communication and alter network dynamics.

Methods

By leveraging the power of human stem cell biology, we create models that allow us to study disease mechanisms with high fidelity. Our experimental systems include:

iPSCs

from patients with NDD and CRISPR/Cas9 edited lines of more than 20 NDD genes

2D cultures

containing excitatory neurons, inhibitory neurons, astrocytes, and microglia

Neuronal organoids

which mimic aspects of early brain development, architecture and connectivity

Through these models, we investigate how mutations impair synaptic communication and alter network dynamics.

Our Expertise

We have developed strong expertise in several key areas that position us as leaders in the emerging field of linking genetic mutations to functional deficits in human neuronal networks: