Our group is interested in the neuronal changes that cause the symptoms of neurodevelopmental diseases (NDD), particularly autism and schizophrenia.
In recent years, we have shown that studying the causes of autism using neurons derived from human patients can lead to insights into the etiology of the disease. We collect skin cells from patients, reprogram these to stem cells using relatively recent techniques, and differentiate them into neurons -- creating a "brain in a dish" that reproduces some of the properties of neurons in living patients. We use a battery of analyses to identify disease-specific cellular phenotypes in these neurons. We complement these cell-based experiments with in vivo studies of mouse models of NDD.
In particular, we are identifying and exploring
Due to the importance of calcium signaling to neural development, function, and disease, we also study the Orai family of calcium channels and their regulation by Stim proteins.
Our studies of Timothy Syndrome, Dravet Syndrome, Phelan McDermid Syndrome, and other NDD-linked genetic disorders have uncovered cellular phenotypes that are amenable to high throughput screening. We are currently beginning our first high throughput screen for new research reagents and, hopefully, therapeutic lead compounds for Phelan McDermid Syndrome.
More about orphan neurodevelopmental disorders
NIMH’s Parent’s Guide to Autism Spectrum Disorder
Phelan McDermid Syndrome Foundation
Autism Research Institute
Autism Science Foundation
International 22q11.2 Foundation
Dravet Syndrome Foundation
Eunice Kennedy Shriver National Institute of Child Health & Human Development
Autism Treatment Center