Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Probing a monogenic form of autism from molecules to behavior  

Dr. Tsien and his collaborators aim to uncover how one genetic mutation in a voltage-gated L-type calcium channel, CaV1.2, affects the development and function of a network of neurons that may lead to autism. Dr. Rasmusson and his colleagues have seen in preliminary experiments that mice with this mutation can display behaviors characteristic of autism. The researchers hypothesize that the mutant channel causes autism by impairing communication within a network of neurons that regulate complex processes such as social behavior. They plan to test this theory by investigating the mutation's impact on neuronal signaling. Rasmusson and his team aim to link the expression of the mutant channel to behavior by determining in which cells the mutant channel is expressed and how their electrical activity differs from cells in typical mice. Tsien's group plans to measure how the mutant channel affects cellular electrical activity and determine, for instance, whether it has abnormal gating properties, which might alter neurons in a network setting. Dr. Dolmetsch and his group plan to study how the mutant channel disrupts the wiring of neurons in the brain. Finally, Dr. Deisseroth and his team aim to determine whether the signaling defects caused by the mutant channel can be traced in brain slices and corrected in vivo using new techniques to monitor and manipulate the activity of cells in brain slices. Working together, these research teams aim to learn how broadly disrupting signaling in the brain with a single mutation can result in autism. Project Status


Funder Simons Foundation
Fiscal Year Funding $187,500.00
Project Number 95395
Principal Investigator Tsien, Richard
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Strategic Plan Objective New! Yellow dot: Objective has some degree of funding, but less than the recommended amount. 2SD. Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g. Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012. IACC Recommended Budget: $9,000,000 over 5 years.
Federal or Private? Private
Institution Stanford University
State/Country California
Web Link 1 Probing a monogenic form of autism from molecules to behavior (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Probing a monogenic form of autism from molecules to behavior | $312,500.00 | 2010 | 95395
Probing a monogenic form of autism from molecules to behavior | $187,500.00 | 2008 | Project number unavailable