Down and Williams syndrome

Circuits of the Brain - Down and Williams Syndromes

Team Overview

The team investigates how genetic cognitive disorders, such as Down Syndrome and Williams Syndrome, affect brain circuitry to learn how these and other cognitive and psychiatric disorders, such as mental retardation and anxiety, can be treated.

Faculty


Julie Korenberg, Ph.D., M.D.	Li Dai, Ph.D.

Promising Research Projects

Discovery of the genetic basis of intelligence in Williams Syndrome, a finding with implications for understanding intelligence, and treating neurological disease, in the general population
Producing a three-dimensional wiring diagram of the brain limbic system, leading to a better understanding of the neural circuitry underlying cognitive and psychiatric disorders including anxiety, depression, schizophrenia, and autism
Dissecting gene networks associated with cognitive disabilities observed in individuals
with Down syndrome
Genomic screening to decipher gene network interactions that contribute to Williams
Syndrome symptoms, including mental retardation and an outgoing personality

Results So Far

Material transfer agreement re: Down Syndrome

Related information :

In April 2010, PLoS ONE published a study she spearheaded with researchers from UCLA and the Salk Institute that found that the brain gene STX1A plays a significant role in the level of intelligence displayed by patients with Williams Syndrome. The study may have implications for the understanding of intelligence and treatment of neurological disease in the general population. A recap of the study is here.
In May 2009, Nature published a paper she co-authored about the genetic basis of the low incidence of solid cancer tumors in Down Syndrome patients. This research holds promise for future developments in fighting cancer in the general population. A Salt Lake City TV station posted an interview with her on the topic.

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