Autism Research Database - Principal Investigator Project Details | IACC

Project Element	Element Description
Project Title Project Title	Autism subtypes by gene characterization
Principal Investigator Principal Investigator	Eichler, Evan
Description Description	The goal of Evan Eichler’s project is to define high-impact genes and mutations associated with sporadic autism. Using molecular inversion probe (MIP) technology, Eichler and his colleagues plan to resequence the protein-coding sequence of 200 autism candidate genes in 8,588 participants who have autism or intellectual disabilities, from eight diagnostic centers worldwide. The researchers aim to focus on the discovery of spontaneous, or de novo, loss-of-function mutations, including smaller copy number variants and recurrent protein-altering missense mutations. Deeper characterization of autism genes may expand the number of individuals associated with each gene and provide information on how to prioritize variation that might emerge from future genome-sequencing projects. Studying these patients will also provide clues as to whether subtypes of autism may be distinguished both at the genetic and clinical levels.
Funder Funder	Simons Foundation
Funding Country Funding Country	United States
Fiscal Year Funding Fiscal Year Funding	325145
Current Award Period Current Award Period	2014-2016
Strategic Plan Question Strategic Plan Question	Question 3: What Causes ASD, and Can Disabling Aspects of ASD be Prevented or Preempted?
Funder’s Project Link Funder’s Project Link	External Project Page
Institution Institution	University of Washington
Institute Location Institute Location	United States
Project Number Project Number	303241
Government or Private Government or Private	Private
History/Related Projects History/Related Projects	Autism subtypes by gene characterization \| 318824 \| 2015 \| 303241 Autism subtypes by gene characterization \| 368757 \| 2014 \| 303241 Autism subtypes by gene characterization \| 0 \| 2017 \| 303241

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