Autism Research Database - Principal Investigator Project Details

Project Element	Element Description
Project Title Project Title	Genetic mutations in chromosome 16 and their role in autism
Principal Investigator Principal Investigator	Escamilla, Christine
Description Description	Genetic mutations in an area of chromosome 16 called 16p11.2 are frequently associated with autism spectrum disorder and other neurodevelopmental disorders. One gene within this region affects head size and may be important for autism risk; another is a known autism risk gene. This study will remove these two genes from an animal model so that their role in the shaping and functioning of brain cells can be examined. The long-term goal is to understand the role of these genes in brain cell activity and identify novel therapeutic targets for future studies.
Funder Funder	Autism Science Foundation
Funding Country Funding Country	United States
Fiscal Year Funding Fiscal Year Funding	25000
Current Award Period Current Award Period	2016-2017
Strategic Plan Question Strategic Plan Question	Question 2: What is the Biology Underlying ASD?
Funder’s Project Link Funder’s Project Link	External Project Page
Institution Institution	University of Texas Southwestern Medical Center
Institute Location Institute Location	United States
Project Number Project Number
Government or Private Government or Private	Private
History/Related Projects History/Related Projects	Genetic mutations in chromosome 16 and their role in autism \| 0 \| 2017 \|