Cortical stimulation to modulate sensory processing in Phelan-McDermid syndrome

Phelan-McDermid Syndrome (PMS) is a rare genetic disorder due to the loss of one copy of the SHANK3 gene (haploinsufficiency) and it is typically characterized by a delay in motor and intellectual development. The SHANK3 gene is crucial for the development of the nervous system and of brain areas responsible for sensory functions such as touch. Patients suffering from PMS show altered responsiveness to sensory stimuli, especially touch. The neural mechanism underlying sensory deficits in PMS is still poorly understood.

The main objectives of this research are (1) to monitor and (2) to modulate the activation of the cortical areas involved in the processing of sensory stimuli in an animal model with a single copy of the SHANK3 gene. 

With this approach, not only will we acquire critical information on the neurobiological processes underlying the symptoms of PMS, but we will also probe the causal link between disease progression and brain (dys)function.

Importantly, the proposed research will test the reversibility of the phenotype, laying the foundations for the future development of new therapeutic approaches in the clinic.