Uytengsu-Hamilton 22q11 Neuropsychiatry Research Awards Program

Vinod Menon, PhD
Professor, Psychiatry & Behavioral Sciences

Study Title: Leveraging Big Data and Using Deep Learning Neural Networks to Predict Progression of Psychosis in 22q11 DS

Our overarching goal is to develop a data-driven computational framework for robust identification of early biomarkers of risk for psychosis in 22q11 DS patients/children. We will do so by using a novel “Big Data” science approach combining exciting recent advances in deep learning neural networks (DNN) and our recent work on quantitative dynamic brain circuit analyses with a wealth of newly available large-scale open-source cross-sectional and longitudinal brain imaging and phenotypic data from consortia and repositories around the world.

Thomas Sudhof, MD
Professor, Molecular and Cellular Physiology

Study Title: Multi-level Analysis of Mouse and Human Neurons with the 22q11.2 Deletion

The 22q11 deletion renders a large number of genes heterozygous. Although multiple systems-level experiments on mouse models of the 22q11 deletion were performed, no analyses of the effects of the 22q11 deletion on fundamental neuronal properties, especially synaptic properties, were performed. Moreover, little is known about the identity of the key genes whose heterozygous deletion drives neuronal impairments. The overall goal of the proposed project is to determine the fundamental phenotypes produced by the 22q11 deletion in neurons, and to identify the genes whose heterozygous deletion drives the development of these phenotypes. 

Alexander Urban, PhD 
Assistant Professor, Psychiatry & Behavioral Sciences and Genetics

Study Title: A Genome Analysis Method to Detect and Resolve the Exact Boundaries of the 22q11 Deletion

We will establish a novel genome analysis methodology that will make it possible, for the first time, to resolve the currently impenetrable Segmental Duplication regions (SegDups, also Low-Copy-Repeats, LCRs) that are flanking almost all 22q11 deletions, and thus to determine the extent of the 22q11 deletion in 22q11DS patients at base-pair resolution.