Assistant Investigator Orefice Lab, Department of Molecular Biology, Massachusetts General Hospital

Assistant Professor of Genetics Harvard Medical School

autism spectrum disorder; developmental neuroscience; gastrointestinal diseases; somatosensory processing Development, function and dysfunction of the somatosensory system

Our lab studies the somatosensory circuits that mediate our sense of touch and sensations from the gastrointestinal system. We are interested in how sensory experience, beginning with peripheral sensory neurons, influences the development of circuits in the spinal cord and brain. A central tenet of our work is that variations in sensory sensitivity and experience between individuals, in particular due to genetic differences, contribute to the heterogeneity of individuals’ cognitive and social behaviors.

We found that genetic mutations or alterations in peripheral sensory neuron function contribute to multiple symptoms observed in autism spectrum disorders (ASD). Our research program combines genetics, anatomy, in vivo and in vitro electrophysiology, imaging, and behavior in mice as well as studies of human-derived neurons.

A major research direction is to study the basic biology of peripheral sensory neurons that innervate the skin. Furthermore, we have a large interest in understanding the development and function of sensory neurons that innervate internal organs, including the gastrointestinal (GI) tract. We seek to understand how tactile input, beginning with peripheral sensory neurons, regulates brain development and influences perception as well as complex cognitive and social behaviors.

We also study the dysfunction of somatosensory circuits, and how this may contribute to different diseases and disorders. We are pursuing directions to selectively target the peripheral nervous system to alleviate ASD-related phenotypes. We are also interested in whether GI dysfunction in ASD may be causally linked to abnormalities in peripheral sensory neurons, to ascertain mechanisms and potential treatments for these symptoms.

Lastly, we aim build better bridges between pre-clinical models and patient physiology using patient-derived iPSC studies. We iterate between mouse models and patient-derived cells to identify cellular mechanisms for peripheral sensory neuron dysfunction in ASD. Through collaboration, we are developing therapeutic tests in patients and identifying new biomarkers for tactile hypersensitivity.