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Current research projects

Research by Brain Bank for Autism

Current Research

Face Processing Area of Brain Shows Anatomical Differences in Autism

Research in the 1990s indicated that individuals with autism spectrum disorders had differences in the way they perceive faces, leading researchers to investigate a unique cortical brain area, referred to as the face processing area. Cells in this area are activated selectively in response to faces as opposed to non-face objects (e.g. a chair). Using non-invasive imaging technology for the study of human subjects, several labs demonstrated that there was less activation of the face processing area in those diagnosed with autism, and that these changes in face processing might contribute to the social deficits seen in those with autism.

A recent research publication in the journal Brain has now shown significant anatomical difference in the face processing part of the brain. This research was done by comparing post mortem brain material donated by individuals affected by autism compared to non-affected donors.

This research paper describes a microscopic evaluation of the face processing area, located in a brain region called the fusiform gyrus. For the last five years, Imke van Kooten, Ph.D., and her colleagues at the University of Maastricht in the Netherlands and in the U.S. have made painstaking measurements of the arrangement of neurons in post mortem brain sections. Such measurements are important since changes in size or total number of neurons is thought to reflect a change in function in a given area. Dr Kooten's research compares the neuron density, total neuron number and mean cell body volume in the fusiform gyrus with that of the primary visual cortex -- an area also dedicated to vision, located in the back of the brain.

Neurons in the primary visual cortex connect to neurons in the fusiform gyrus, effectively sending visual information to the region specialized for face processing. Analysis of neurons in these two areas showed that, compared to non-affected individuals, individuals with autism showed significant reductions in neuron density, total neuron numbers, and mean neuron cell volume in the fusiform gyrus. These results are interpreted to mean that, in autism, while the primary visual cortex has neurons in normal numbers and size, the fusiform gyrus shows neuropathological changes.

Dr Kooten and her colleagues suggest that the reduced neuronal size and total neuron number in the fusiform gyrus might contribute to impaired face processing in autism. Since individuals with autism can indeed 'see' faces, most likely by utilization of unique neural circuitry, the research team plans further study of other additional cortical areas implicated in visual processing. This continued research will be part of the Brain Atlas Project, a larger study supported by Autism Speaks' Autism Tissue Programme which is based in the US. The project, a joint effort of co-PIs Christoph Schmitz, Ph.D., and Jerzy Wegiel, Ph.D., at the NY Institute for Basic Research in Staten Island, was started officially in 2002 and is comprised of 14 autism-affected and 14 non-affected brain donor hemispheres ranging from age 4 to 66. The publication summarized here represents the first data from this project, reporting on the first 7 autism-affected brains. The aim is to perform comprehensive cell counting and volumetry, neuropathology, MRI and 3-D reconstructions of donor brain hemispheres, a rare and unique resource so lovingly provided by families.

Autism Speaks' Brain Bank for Autism and Related Developmental Disorders supports specialized neuropathology research such as this by providing approved scientists access to the most rare and necessary of resources, post mortem human brain tissue. We wish to recognize the gifts of hope by our brain donor families.

Van Kooten, IAJ, Palmen, SJMC, von Cappeln, P; Steinbusch, HWM, Korr, H, Heinsen, H, Hof, PR, van Engeland, H & C Schmitz. 2008. Neurons in the fusiform gyrus are fewer and smaller in autism. Brain, 131(4):987-999.

Other Research Projects


Brain Structure (Stereology)

  • Studying the structure of both individual brain cells and entire brain structure to understand the mystery of autism.
  • Comprehensive Analysis of Regional and Microstructural Differences in Autism" and "Laminar Organization and Gene Expression Profiling in the Dorsolateral Prefrontal Cortex in Autism" Eric Courchesne, PhD, Department of Neuroscience, University of California at San Diego. 2007. Read Abstract
  • "Comprehensive Analysis of Regional Microstructural Differences in Autism." PI: Eric Courchesne, PhD, UCSD, CA. 2006. Read Abstract
  • "The organization of pyramidal cell dendrites within the cerebral cortex in autism." Paul Gabbott and Payam Rezaie. Department of Life Sciences, Neuropathology Research Laboratory, The Open University, United Kingdom. 2007.
  • "Histopathologic Analysis of Neuronal Fiber Pathways in Autism." Thomas Conturo. Mallinckrodt Institute of Radiology, Washington University School of Medicine. 2006.
  • "Organization of the Auditory Brainstem in Autism Spectrum Disorders." Randy Kulesza. Lake Erie College of Osteopathic Medicine, PA. 2006
  • "Examining alterations in cortical neuronal subpopulations and synaptic proteins in autism." Payam Rezaie, Ph.D., Neuropathology Research Laboratory, Department of Life Sciences, The Open University 2005.
  • "Relating Autism to the Structure of Neocortical Minicolumns." Manuel Casanova, M.D., Medical College of Georgia. 2002. Read Abstract
  • "Stereological Analysis of the Cerebellum, Cerebrum and Corpus Callosum in Autism." Eric Courchesne, Ph.D., University of California, San Diego. 2002.
  • "Clinicopathological Correlation in Autism." Co-PIs: Christoph Schmitz, University of Aachen, M.D., Germany and Jerzy Wegiel, Ph.D., Institute for Basic Research, NY. 2002. Read Abstract
  • "A Microscopic Study on the Neuroanatomical Abnormalities of Language-related Cortical Areas in Autistic Patients." Jorge Prieto, M.D., Ph.D., University de Miguel Hernandez, Spain. 2000. Read Abstract
  • "Post-Mortem Neuroanatomical Evaluation of the Amygdaloid Complex in Autism." David G. Amaral, Ph.D., University of California, Davis. 2000. Read Abstract
  • "X Inactivation in Males and Females with Autism." Roger Stevenson, M.D., Greenwood Genetic Center, South Carolina. 2001.

Environmental Factors

  • "Alternative Splicing of Brain Methionine Synthase in Autism" Richard Deth, PhD, Department of Pharmaceutical Science, Northeastern University. 2007. Read Abstract


  • How changes in gene function occur without a change in DNA sequence. This area of research is reshaping the way scientists are looking at genetics.
  • "Testing a Mixed Epigenetic/Genetic and De Novo (MEGDI) Model for Aurism" Arthur Beaudet, MD, Department of Molecular and Human Genetics, Baylor College of Medicine. 2007 Read Abstract
  • "Genome-wide profiling of methylation patterns in autism." Simon Gregory. The Center for Human Genetics, Duke University Medical Center, NC. 2006. Read Abstract
  • "MeCP2 mutations on DLX5 in Rett and Autism." PI: Terumi Kohwi-Shigematsu, Ph.D., Lawrence Berkeley Laboratory, CA. 2006.
  • "Epigenetic Alteration and Autism Susceptibility." H-Y Jiang, M.D., PH.D., Baylor College of Medicine, TX. 2002. Read Abstract
  • "Chromatin Modifications in Human Cerebral Cortex. Implications in Autism." Schahram Akbarian, M.D., University of Massachusetts, MA. 2002. Read Abstract
  • "The Role of MeCP2 in Autism Spectrum Disorders." PI: Janine LaSalle, Ph.D., UC Davis School of Medicine, California. 2002. Read Abstract
  • "Further Identification of Differential Gene Expression in Autism Brain Tissue." Jonathan Pevsner, Ph.D., Kennedy Krieger Institute and Johns Hopkins School of Medicine, Maryland. 2000. Read Abstract
  • "Molecular Characterization of the Autistic Brain." Lap Ho, Ph.D., Mt. Sinai School of Medicine, New York. 2000. Read Abstract
  • "Gene Expression Profiling of Autism: Alterations in Temporal Lobe Profiles." Scott Hemby, Ph.D., Emory University, Atlanta, Georgia. 2000. Read Abstract

Genes and Proteins

  • How genes work to build circuits necessary for proper brain function.
  • "Brain-specific profiling of miRNAs that regulate expression of synaptic plasticity proteins in autism spectrum disorders." Kawther Abu-Elneel. Neuroscience Research Institute, University of California, Santa Barbara, CA. 2006.
  • "Ca(v)1.2 "Parallel analysis of gene expression and gene copy number in brains of autistic patients." PI: Antonio Persico, M.D., Campus Bio-Medico, Rome. 2006.
  • "Activation of the PI3K/AKT pathway in human autism." PI: C. H. Kwon, Ph.D., UT Southwestern Medical Center, Dallas, TX. 2006.
  • "Glutamatergic (VGLUT1) neurons and terminals in autism." Catalina Betancur, M.D., Ph.D., U. of Paris XII, France. 2005.
  • "Engrailed 2(EN2) or (CAPON) splice variants and mRNA/protein in brain tissue" Linda Brzustowicz, M.D., Rutgers University, NJ. 2005. Read Abstract
  • "Analysis of AUTS2 gene (7q21) and SLC24A12/AGC1 gene (2q24-33) in brain tissue." Michel Simonneau, M.D., Ph.D. INSERM (Paris), France. 2005.
  • "Calcium Channel & Timothy Syndrome." Igor Splawski, Ph.D. Harvard Medical School, Boston. 2004.
  • "Quantitative variation of sodium channel gene expression in autism brain." Miriam Meisler, Ph.D., University of Michigan. 2002. Read Abstract
  • "Characterization of Genes Involved in the Etiology of Autism Spectrum Disorders." Jeanette Holden, Ph.D., Queen's University, Kingston, Ontario. 2001. Read Abstract
  • "Alterations in brain mRNA expression in autism determined by gene microarray technology." Rajan, Ph.D., Psychiatric Genomics, Gaithersburg, MD. 2001. Read Abstract

Glial Cells

  • "Analysis of the primate-specific interlaminar astroglia in the cerebral cortex of autistic cases." PI. Jorge A. Colombo, Universidad de Buenos Aires, Argentina. 2006.
  • "Assessment of the glial response within cerebral cortex in autism." Payam Rezaie. Department of Life Sciences, Neuropathology Research Laboratory, The Open University, United Kingdom. 2006.
  • "Microglial Activation in Autism." Andrew Zimmerman, M.D., Kennedy Krieger Institute, Maryland. 2002. Read Abstract
  • "Structure of Cortical Layering, Cell Density, and Synaptic Spine Density in Individuals with Autism." Jeffrey Hutsler, Ph.D., University of Michigan, Ann Arbor, MI. 2001. Read Abstract
  • "Neurobiology of the Limbic System in Autism." Margaret Bauman, M.D., Boston University, MA. 2001. Read Abstract
  • "Neurochemical Studies on Infantile Autism." Raju Pullarkat, Ph.D., Inst for Basic Research in Develop. Dis., Staten Island, New York. 2000. Read Abstract
  • "Role of Connectivity in Autism (Synaptogenesis)." Karen Weidenheim, M.D., Albert Einstein School of Medicine, New York. 2000. Read Abstract

Growth / Development Factors

  • "DBNF and 5-HT2 Receptor mRNA in Autistic and Control Brain Tissue." Margaret Fahnestock, Ph.D., McMaster University, Canada. 2002.
  • "Distribution of Central Oxytocin Receptors." Maria Boccia, Ph.D. University of North Carolina, 2002. Read Abstract
  • "Cell Adhesion Molecules in Cerebellum of Autistic Individuals." Omanand Koul, Ph.D., E. K. Shriver Center for Mental Retardation, Massachusetts. 2001. Read Abstract
  • "Growth Factor Expression in Autism." Deborah Lee, M.D., Ph.D., Tulane University, New Orleans, Louisiana. 2000. Read Abstract
  • "The Roles of Neuro-Regulatory Proteins Reelin and BCl-2 in Autism." S.H. Fatemi, M.D., Ph.D., University of Minnesota. 2000. Read Abstract
  • "Autism: developmental abnormalities in the cerebellum (NCAM and CD15)." Elizabeth Sajdel-Sulkowska, Ph.D., Harvard Medical School, Boston, 2000. Read Abstract

Neurochemistry and Synaptic Processes

  • Exploring how brain cells communicate and connect with each other
  • "Studies of the Fusiform Face Area, Broca's Area, and Wernicke's Area in Autism" Gene Blatt, PhD, Department of Anatomy and Neurobiology, School of Medicine, Boston University. 2007 Read Abstract
  • "Studies of Neurotransmitter Receptor in the Behavior of Autistic Brain" Ricardo Miledi, MD, Department of Neurobiology and Behavior, University of California, Irvine. 2007. Read Abstract
  • "Expression of the Calcium-Binding Protein Parvalbumin (PV) and the Autistic Brain" Patrick Gregory, PhD, Unit of anatomy, University of Fribourg. 2007
  • "mRNA Expression Analyses of Serotonin Transporter (5-HTT) and Serotonin Transporter Related Candidate Genes in Postmortem Brains" Kazuhiko Nakamura, MC, PhD, Department of Psychiatry and Neurology, Hamamatsu University School of Medicine. 2007. Read Abstract
  • "Neuroinflammation, the kynurenine pathway, and autism." Michael Vogel. Maryland Psychiatric Research Center, MPRC School of Medicine, MD, 2006.
  • "Cholinergic Activities in Autism." Elaine Perry and Mandy Lee, Newcastle General Hospital, United Kingdom. 2001.
  • "Cerebellar and Limbic System Research in Autism (GABA and BZ receptors)." Gene Blatt, Ph.D., Boston University School of Medicine, Massachusetts. 2001 Read Abstract

Tissue Array Projects

  • Expanding the use of multiple resources for scientists to study
  • "S6 Ribosomal Protein Phosphorylation in Autistic Frontal Cortex and Cerebellum: a Tissue Array Analysis." PI: Charles Eberhart, M.D., Ph.D. Johns Hopkins University School of Medicine, Baltimore, MD. Tissue Array Slides with autism, Rett and control tissue were made by Dr. Eberhart at the Johns Hopkins Tissue Array Laboratory. 2004.
  • "Oxidative Stress Responses in Autism" PI: George Perry, Ph.D. Case Western Reserve University, Cleveland, OH. 2004.
  • "Test for Microglia CD163 and other markers in a Tissue Array." PI: Scott Kulich, M.D., Ph.D. University of Pittsburgh Medical Center, PA. 2004.
  • "Tissue Arrays - Test for Oxidative Damage." Scott Kulich. University of Pittsburgh Medical Center, PA. 2004.
  • "ATP Tissue Microarray I." Charles Eberhart. Johns Hopkins University School of Medicine, Maryland. 2003.
  • "MECP2 binding test of Tissue Array #1." PI: Janine LaSalle, Ph.D., UC Davis School of Medicine, CA. 2002.

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