The Autism Research Institute (ARI) conducts, sponsors, and supports research on the underlying causes of, and treatments for, Autism Spectrum Disorders (ASDs). In order to provide parents and professionals with an independent, unbiased assessment of causal and treatment efficacy issues, ARI seeks no financial support from government agencies or drug manufacturers.
We therefore rely on the generosity of donors so that we may continue to advance autism research. Our founder Dr. Bernard Rimland would often say, ‘Research that makes a difference!’ to remind us of the need to focus on what might be beneficial here and now for people with ASDs.
ARI-funded Research in 2017-2018 (this is a sample of the proposals funded, not an exhaustive list):
Role of environmental factors in autism spectrum disorder
Ved Chauhan, Ph.D. and Abha Chauhan, Ph.D.
The Research Foundation of Mental Hygiene
This project involves evaluating the effects of three environmental chemicals i.e., bisphenol A (BPA), methylmercury (MeHg) and alcohol, alone and in combination, on development and behavior of Drosophila (fruit fly) larvae, along with behavior of flies. To understand the mechanism of developmental and behavioral alterations, they will also analyze the biochemical changes, gene expression, and protein expression.
To determine the minicolumnar morphometry of autistic, 15q dup and variousShank3 mutant mouse models as compared to those in control tissue.
Manuel Casanova, MD
University of South Carolina at Greenville
This study will examine differences in minicolumnar morphometry between the brains of 7 autistic individuals, 7 patients with 15q dup, 7 controls, all matched for age and sex (already obtained from the Autism Tissue Program), and the brains of various Shank3 mutant mice and wild type (n=15 total).
Analysis of Common Factors in Genetic and Non-Genetic ASD Models
Andreas Grabrucker, Ph.D. and Kieran McGourty, Ph.D.
University of Limerick
Using an original maternal zinc deficient mouse model to generate ASD behaviors in prenatal zinc deficient offspring, the investigators plan to use proteomic analysis of 4 brain regions to identify common biochemical pathways that are dysregulated in both genetic and non-genetic causes of ASD. Brain samples and behavioral analyses have previously been collected and this proposal will provide proteomic evaluation of these tissues and in addition provide an extended in silico comparison with other “omics” based ASD studies.
Determination of exosomal biomarker candidates in ASD
Judy Van de Water, Ph.D.
UC Davis, MIND Institute
The study of exosomes is a relatively new and exciting area of research. Simply defined, exosomes are small extracellular vesicles that modulate important functions in cell physiology and development and are thought to have a pathologic function in certain conditions of the central nervous system (CNS). Exosomal contents include proteins, lipids and various RNA species that have been shown to be altered during disease. The fact that exosomes are released into the blood stream from blood cells and endothelial cells responding to CNS diseases as well as from the brain and spinal cord, and that they express markers that allow their tracking to the cell of origin make them appealing as a target metric for biomarker and diagnostic tool development. While the utilization of exosomes for biomarkers and diagnostics in diseases affecting the CNS are still in the early stages of discovery and development, the goal of this pilot project is to fill this knowledge gap and perform an unprecedented proof-of-principle study analyzing the exosomal RNA and protein cargo associated with autism spectrum disorder (ASD) aiming to identify potential biomarkers and to inform as to CNS status.
Joint Hypermobility & Hypermobile Spectrum Disorders in Mothers of Children with Autism & ADHD
Emily Casanova, Ph.D.
University of South Carolina
In this study on joint hypermobility, as well as related features, we plan to survey mothers of children with autism who are assessed by our clinic, which diagnoses and treats many hundreds of ASD children each year. In addition, we will assess the relationship of GJH features in mothers in association with: 1) estimates of cognitive impairment in the child, 2) maternal features associated with the Broader Autism Phenotype (BAP), and 3) maternally reported immune- (e.g., chronic respiratory allergies, asthma, hives, etc.) and hormone-mediated symptoms (e.g., polycystic ovary syndrome, menstrual disorders, etc.). Mothers of children with ADHD will be used as controls in this study.
Metabolomics Analysis of Young Children with Autism Spectrum Disorders and Their Mothers Compared to Neurotypical Controls
Haiwei Gu, Ph.D. and James Adams, Ph.D.
Arizona State University
The overall goal of this proposal is to simultaneously analyze and compare urine samples from children with ASD and their mothers compared to NT controls using metabolomics technology. The investigators hypothesize that ASD induces a correlated reprogramming in children and their mothers which could be targeted for diagnosis and treatment before birth and in childhood.
To study the effect of zinc therapy on ERK levels in individuals with autism
AJ Russo, Ph.D
This proposal aims to measure plasma ERK levels and zinc levels before and after zinc supplementation in 50 ASD and 50 control subjects to determine whether there is an association between plasma zinc and ERK levels and whether supplementation affects severity of autism symptoms.
Gender Dimorphism: Microbiome Analysis in Autistic Boys and Girls
Rafail Kushak, Ph.D., Dr. Sc.
Massachusets General Hospital,
Harvard Medical School
This proposal will test a new hypothesis suggesting that differences in the intestinal microbiota may underlie the well established male preponderance in ASD. Because intestinal microbiota is partially derived from the mother during vaginal birth, the microbiome of girls and boys with ASD and their mothers will be analyzed at the Pediatric GI and Nutrition Unit at Mass General Hospital. The microbiome of 24 boys with autism and 24 girls with autism from the same family and their parents will be compared with microbiome of 24 boys without autism and 24 girls without autism from the same family along with their mothers and fathers. This is the first study to examine the potential role of microbiota in etiology of the gender dimorphism of autism.
Maternal dysbiosis at birth as a model for increased risk of autism
Paul Ashwood, Ph.D.
UC Davis School of Medicine
Intestinal colonization of microbes immediately following birth is critical for establishment of the microbiota. The transference of microbiota occurs typically from mother to infant through vertical transmission of microbes during vaginal delivery or skin microbes following caesarian-section (C-section) delivery. The establishment of a diverse gut microbiota during birth is considered important for maintenance of overall health and well-being. The use of antibiotics during delivery has increased since the 1990’s to over 30% of births in the U.S. Their use during labor and delivery shifts maternal microbial balance and diversity leading to gut dysbiosis. Disruptions in maternal microbiota and early colonization may have long-lasting impacts including alterations in intestinal barrier function, immune system establishment and maturation, metabolic disorders and changes in neurodevelopment. Such changes have been linked to autism development. New research indicates that dysbiotic microbiota during gestation and delivery can be vertically transferred to offspring, and that certain important beneficial early colonizing commensals are irrevocably lost. Recent evidence from models also suggests early life dysbiosis detrimentally impacts the developing gut-brain axis and leads to neurodevelopmental and autism-relevant behavioral changes. Our overall hypothesis is that microbiota dysbiosis in gestation will perturb microbiota transfer to the offspring, leading to intestinal dysbiosis that contributes to intestinal pathology, inflammation, and and autism relevant behaviors. The long-term objectives are to assess whether the alteration of maternal microbiota will result in long-term changes in microbiota composition in the offspring, altered local intestinal barrier function, increased neuroinflammation and altered behavioral outcomes.