Neurodevelopmental neurodegenerative and psychiatric disease are complex brain disorders, and a multitude of genes have been described to contribute to their pathology with different penetrance. Human genetic studies have discovered many genes associated with disease susceptibility that are usually described as risk factors. For each of these disorders, synaptic proteins have been implicated, in particular those involved in synaptic plasticity and protein complexes associated to the post-synaptic density (PSD). Despite these discoveries, there has been a gap in understanding the underlying mechanisms that contribute to cellular dysfunction in these disorders. Our long-term goal is to determine how candidate risk factors are functionally integrated and how mutations affect their function, not individually, but in developmental signaling networks.
Neurodevelopmental neurodegenerative and psychiatric disease are complex brain disorders, and a multitude of genes have been described to contribute to their pathology with different penetrance. Human genetic studies have discovered many genes associated with disease susceptibility that are usually described as risk factors. For each of these disorders, synaptic proteins have been implicated, in particular those involved in synaptic plasticity and protein complexes associated to the post-synaptic density (PSD). Despite these discoveries, there has been a gap in understanding the underlying mechanisms that contribute to cellular dysfunction in these disorders. Our long-term goal is to determine how candidate risk factors are functionally integrated and how mutations affect their function, not individually, but in developmental signaling networks.
