S Jill James, PhD

Professor of Pediatrics, University of Arkansas for Medical Sciences/College of Medicine/Department of Pediatrics
Director of the ACHRI Autism Metabolic Genomics Laboratory

Research Overview

For over two decades, biochemist Dr. S. Jill James has pioneered the study of the metabolic biomarkers of autism and genetic factors that may be mechanistically involved in the pathogenesis of autism at ACRI.  As a result of her discovery of metabolic abnormalities in children with autism, she is widely respected in the autism scientific community and is sought out to present her findings at national and international conferences.  Specifically, she and her team have found in three independent case-control studies that plasma levels of metabolites important for detoxification and antioxidant capacity are significantly decreased in the children with autism relative to age-matched controls.  This decrease in antioxidant/detoxification capacity was associated with evidence of oxidative DNA damage and mitochondrial dysfunction in immune cells suggesting that children with autism may be more vulnerable to environmental factors that increase oxidative stress. More recently, she and her team have investigated brain tissues derived from individuals with autism and have found similar deficits in antioxidant capacity and evidence of brain inflammation and mitochondrial dysfunction in the autistic brain compared to unaffected control brain tissues.

Dr. James’ work also encompasses cutting edge research into metabolic control of the “epigenetic” regulation of gene expression in immune cells and brain cells in autism that may provide mechanistic insights into immunologic and neurologic abnormalities in autism. These discoveries in the laboratory have provided the scientific rationale for intervention treatment trials targeted at improving metabolic balance as well as behavioral symptoms in the children. Her interest also extends to mothers of children with autism who exhibit similar metabolic abnormalities.  She collaborates with a National Institutes of Health network (EARLI study) and the University of California at Davis (MARBLES study) to investigate whether metabolic abnormalities during high risk pregnancies can predict an autism outcome. If this turns out to be true, interventions to normalize the metabolic abnormalities have potential to prevent occurrence/recurrence of autism and decrease the current high incidence of autism. 

In collaboration with doctors and psychologists from the UAMS Dennis Developmental Center, Dr. James is currently conducting a double-blind, placebo-controlled study to evaluate the efficacy of broad-spectrum nutritional supplementation in children with autism to normalize the metabolic imbalance, improve immune function and behavioral symptoms. Her passion for her work stems from her respect and compassion for the parents of children with autism and the potential for improvement in medical and behavioral symptoms with evidence-based nutritional interventions to normalize the metabolic imbalance in children with autism.

Complete List of Published Work in MyBibliography