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Michael S. Breen, PhD, Mount Sinai School of Medicine
Mentor: Joseph Buxbaum, PhD
Developing peripheral blood and neuronal biomarkers for autism using a genetically defined subtype
This project will begin to determine the potential validity of a blood based biomarker for autism by comparing gene expression in blood and IPSC cells from the same patients. In this project, Dr. Breen will use information from individuals with a severe form of autism characterized by a mutation of the SHANK3 gene. This work will begin to identify new genes/pathways in blood samples that will improve diagnosis and also identify new drug targets that will enhance the development of new treatments. These findings can then be applied to a broader range of people with ASD.
Michelle Failla, PhD, Vanderbilt University
Mentor: Carissa J. Cascio, PhD
Understanding the pain response in people with autism
Because of difficulties communicating, people with autism may not be able to express their response to physical pain in a variety of situations. It is also possible that sensory issues may change processing to pain, or the interpretation of stimuli as painful or not painful. Very little research has been done to address this crucial issue affecting those with ASD and impacting their clinical care plan. This study will examine verbal and non-verbal responses to mild stimuli in adults with ASD. The findings will help clinicians understand pain sensitivity in those with autism so that new strategies to assess and manage pain can be developed.
Isabella Rodrigues Fernandes, PhD, University of California, San Diego
Mentor: Alysson Renato Muotri, PhD
Screening for new autism treatments using cells in a dish
The Muotri lab is using a cell culture system which more accurately models the complexity of the human brain compared to just single brain cells. Including other cells found in the brain, like astrocytes, allows researchers to identify additional factors that affect brain function. In this way, the researchers can recreate many biological features of ASD, incorporating networks of brain cells acting together and the inflammatory responses of astrocytes. Using this system, the researchers will screen 10 potential therapeutic drugs in a system where the cells have an autism-related mutation and examine not just the effect of neurons, but other brain cells as well. This will impact the way that molecules for treatment are identified, screened, and then moved into clinical trials.
Dorothea Floris, PhD, New York University Medical Center
Mentor: Adriana Di Martino, MD
Characterizing the female and male brain in autism
As a result of data sharing efforts, neuroimaging databases with thousands of pieces of data covering hundreds of individuals with and without autism now exist. Using two of these databases, this project will examine functional magnetic resonance imaging data (fMRI) to better understand which areas of the brain are over connected or under connected in autism. By combining databases of imaging data, the researchers will be able to include enough females to understand how brain connectivity in males and females with autism are similar and different. Ultimately, this will inform future development of gender and sex-specific diagnostic criteria and interventions.
Eitan Kaplan, PhD, Seattle Children’s Research Institute
Advisor: Robert F. Hevner, PhD
Determining the genetic and environmental factors influencing brain development
Scientists agree that most cases of autism are the result of genetic and environmental interaction. In this study, researchers will explore how the development of new brain cells are affected by the combination of a genetic mutation in a known autism risk gene (TBR1) and the environmental factor of an immune response during pregnancy. This novel approach will better describe the role of each risk factor – genetic and environmental – separately, and together on the formation of the cerebral cortex, a brain region known to be involved in ASDs.
Carol Wilkinson, MD, PhD, Boston Children’s Hospital
Mentor: Charles A. Nelson, PhD
Developing biological markers for more severely affected individuals
There is great variability in cognitive function, language ability and behavioral symptoms in people with autism. Studying single-gene disorders associated with ASD, such as Fragile X Syndrome (FXS), can address the differences seen across the spectrum of autism. Nearly half of all children with FXS meet criteria for ASD, and virtually all have cognitive and language difficulties ranging from mild to severe. This provides an opportunity to examine biomarkers of individuals on the more severe end of the autism spectrum. This project will use non-invasive brain activity measures to understand what happens in the brains of young children with Fragile X during in response to sensory stimuli, and how this correlates with symptoms often seen in autism. These brain-based markers will then be used in future clinical trials as objective measures for targeted outcomes. This fellowship is supported through a partnership between the Autism Science Foundation and the FRAXA Research Foundation.
Songjun William Li, Boston University School of Medicine
Advisor: Ziv Williams, MD
Exploring the possibility of deep brain stimulation in autism
Deep brain stimulation is a therapy used for many neurological disorders but so far has been not well understood in those with autism spectrum disorder. In order to better understand the specific areas for autism-related behaviors that would be the target of this therapy, this research group will study monkeys that are trained in a social interaction task. The researchers will look at how the cells work at different times during this task, and stimulate certain cells to better understand how deep brain stimulation may help people with ASD.
Elizabeth Sharer, University of Minnesota
Mentor: Jed Elison, PhD
Defining the female protective effect in infants with ASD
Four times as many boys as girls are diagnosed with autism, and multiple lines of evidence suggest a “female protective effect” as one explanation for the sex bias. Past research has focused primarily on females who have been diagnosed with ASD, but it is unknown whether the protective effect is evident in females who show some symptoms of autism but not enough to warrant a full diagnosis. Examining brain and behavioral development from toddlerhood, this is the first study to investigate the female protective effect in infants who show behaviors of concern, as compared to those who develop typically and those that are later diagnosed with ASD. This will help efforts to identify those with autism and other concerns as early as possible, and may provide more personalized approaches to treatments for females with autism.
Christina N. Vallianatos, University of Michigan
Mentor: Shigeki Iwase, PhD
Illustrating the importance of epigenetics in the sex bias of ASD
While the genetic influences in ASD have received attention, chemical modifications to DNA, or epigenetics, are less understood. By tagging certain parts of the DNA or altering its shape, environmental factors can change expression of genes related to ASD. In addition, epigenetics may play a role in why more males are diagnosed with ASD than females. This study will examine the function of a gene important in epigenetics called KDM5C. So far, this gene is associated with autism and intellectual disability in males, therefore research using animal models has been limited to males. Therefore, this study will look at a mutation of KDM5C in females, focusing on behavioral features, brain development and “downstream” gene expression. This research will shed light on the mechanisms of possible gene/environment interactions in a previously understudied group of people with autism: females.
Sabatino DiCriscio, PhD, Geisinger-Bucknell Autism & Developmental Medicine Institute
Advisors: Christa L. Martin, PhD, FACMG and Vanessa Troiani, PhD
Pupil response in individuals with ASD and known copy number variations
The expansion or contraction of the pupil differs in people with autism compared to those without ASD. The magnitude of the pupil response also falls on a spectrum with some people showing a huge response and others showing a more moderate response. In this way, pupillometry could help define individuals with autism across a range of symptoms, expanding our diagnostic capability beyond a single “yes” or “no” classification. For this grant, pupillometry data from a subset of participants in an existing genetic study of individuals with autism who have known de novo copy number variations will be collected, so that the genetic basis of pupil response can be better understood. The pupillometry data will be compared to behavioral features of ASD to directly examine its relationship to autism symptoms. Better understanding of this biological basis of differences across behaviors in people with autism will improve diagnosis and intervention efforts, help define different subtypes of autism, and ensure each person receives the most appropriate treatment as quickly as possible.
John Strang, PsyD, Children’s National Medical Center
Longitudinal follow up to adolescent social skills and executive functioning intervention studies
Most intervention studies are funded to track post-intervention outcomes soon after an intervention is completed. In addition, intervention studies are often delivered in controlled settings and generalization to other, more natural environments is typically unknown. This funding will support an additional 4 months of post-treatment follow up to an ongoing study examining two different public-school administered interventions for adolescents with autism: one targeting social skills and the other executive function skills. The longer term follow up will enable the team to collect data on both the immediate and longer term impacts of these interventions and allow researchers to obtain qualitative feedback from parents and individuals with ASD about their experiences with the interventions.
Undergraduate Summer Research Grants:
Mentor: Rebecca M. Jones, PhD, Cornell University
Danielle will work at the Center for Autism and the Developing Brain to understand how the brains of individuals with autism function in tasks involving impulsivity. Her research will help improve intervention targets, specifically for adolescents who struggle in impulse control.
Mentor: Geraldine Dawson, PhD, Duke University
Sensory sensitivities may contribute to the presence of restricted and repetitive behaviors (RRBs) like mouthing and hand flapping. Jacqueline will combine information on sensitivity with sensory information, including a new way to measure how people with autism react to sensory stimuli. This will help improve our understanding of what contributes to different RRBs so they can be better treated.
Mentor: Matthew D. Lerner, PhD, Stony Brook University
Individuals with autism struggle with obtaining, securing and maintaining employment. Christopher will work with Dr. Lerner to conduct a survey of individuals with autism, family members, employers and service providers on experiences, needs, and ways to improve employment opportunities, with the ultimate goals of developing an employment policy to help those with autism.
Mentor: Stephan Sanders, MD, BMBS, University of California at San Francisco
Edward will use a novel analytic tool developed by Google/Verily Life Sciences to study the genetic makeup of thousands of families, with the goal of identifying new genes associated with autism. Adaptations to this tool will help better identify a specific type of genetic change that has recently been discovered in ASD.
Mentor: Inna Fishman, PhD, San Diego State University
Relatively little is known about brain development in the first year of life, so making comparisons between those with and without autism is very difficult. Ellyn will combine images from existing brain atlases to create a template of the typically-developing infant brain so that it can be compared to the brains of infants at risk for autism.
Mentor: Jed Elison, PhD, University of Minnesota
Laura’s research will focus on the amygdala, an area of the brain known to be affected in adults with autism. This project will study the function of the amygdala during an attention task in toddlers to help better determine the biological basis of attention problems in young children – problems that may be responsive to early treatment.