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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

Folate receptor autoimmunity in Autism Spectrum Disorders

Principal Investigator

Principal Investigator

Quadros, Edward

Description

Description

This project explores the role of folate receptor (FR) autoantibodies in the pathogenesis of autism. This novel hypothesis is based on preliminary data generated by numerous studies that have reinforced the role of folate as an essential nutrient and folate receptor as the protein necessary for delivering this nutrient to the developing embryo as well as the brain. Identification of low cerebrospinal fluid folate and the presence of FR autoantibodies in children with neurodevelopmental disorders such as cerebral folate deficiency syndrome and autism provide compelling evidence to implicate FR autoimmunity in the developmental deficits. This study encompasses many of the targeted priorities of Autism Speaks in identifying FR autoantibodies as a risk factor for autism and folinic acid administration as a possible treatment to correct the deficit. This research covers epigenetic mechanisms, early detection, novel treatment approaches and dissemination of validated methods. Patients with cerebral folate deficiency that have FR autoantibodies have shown marked improvement in their condition following treatment with folinic acid. Identification of FR autoantibodies in parents will allow us to determine a genetic link and embryonic exposure to FR autoantibodies contributing to the pathology. This study has the potential to provide a method for early detection of autism risk and intervention. The studies are designed to extend preliminary observations on the association of folate receptor autoantibodies with ASD and identify potential mechanism contributing to their pathology.

Funder

Funder

Autism Speaks

Fiscal Year Funding

Fiscal Year Funding

149963

Current Award Period

Current Award Period

2013-2016

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

Strategic Plan Objective

Green dot: Objective has greater than or equal to the recommended funding. 2SA. Support at least four research projects to identify mechanisms of fever, metabolic and/or immune system interactions with the central nervous system that may influence ASD during prenatal-postnatal life by 2010. IACC Recommended Budget: $9,800,000 over 4 years. (Fever studies to be started by 2012.)

Project Link

Project Link

Folate receptor autoimmunity in Autism Spectrum Disorders (External web link)

Institution

Institution

State University of New York, Downstate Medical Center

State/Country

State/Country

New York

Project Number

Project Number

8202

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Folate receptor autoimmunity in Autism Spectrum Disorders | 149656 | 2014 | 8202
Folate receptor autoimmunity in Autism Spectrum Disorders | 149755 | 2013 | 8202

 
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