Modeling neurodevelopmental disorders with genetically defined human neurons

2014 Seed Grant
Helen Bateup, Ph.D.
Dept. of Molecular and Cell Biology
University of California, Berkeley

Model experimental systems, such as mice, are often used to investigate the mechanisms of neurological disease. However, it would be ideal to examine the causes of disease and test potential therapeutics in a human cellular context. To achieve this we are utilizing a “disease-in-a-dish” approach based on state-of-the-art technology to transform skin cells obtained from patients into human brain cells, called neurons. These neurons retain the genetic information of the patient from which they were derived allowing us to investigate disease mechanisms in a clinically relevant context. We propose to use this system to investigate how mutations in genes that cause the autism and epilepsy-related disorder Tuberous Sclerosis Complex (TSC) affect the ability of neurons to communicate with each other, and how altered neuronal communication leads to imbalanced neural network activity. In addition to revealing the causes of brain dysfunction in neurodevelopmental disorders, our future studies will test the ability of potential therapeutics to restore normal patterns of activity directly in patient-derived neurons.

Other Grants

Andre Berndt, Ph.D.
Monitoring Communication in Neuronal Networks in Real Time and at Single Cell Resolution
Visualizing the flow of information through the complex and intertwined networks of the brain is a long‐sought goal of neuroscience. Genetically encoded proteins such as the fluorescent calcium sensor GCaMP…
Denise Cai, Ph.D.
Investigating the Role of Negative Valence in the Temporal Dynamics of Memory-Linking
Determining how distinct memories are formed, linked, and retrieved, and the role of fear in these processes, is an essential part of understanding PTSD, a debilitating disorder characterized by the…
Dr. Weizhe Hong, Ph.D.
Dissecting the Organization and Function of Social Behavioral Circuits in the Amygdala
Social interactions play a crucial role in the reproduction, survival, and physical and mental health of many vertebrate species including humans. Impairment in social behavior is a hallmark of several…
Takashi Kitamura, Ph.D.
Neural Circuit Mechanisms of Behavior-Dependent Representation for Space and Time
The central question in my proposal is whether our perception of time and space share the same circuit mechanisms during our daily life. Recent studies suggest that neurons in the…