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Laura Kinlin, MD, MPH, FRCPC|Hospital for Sick Kids, Toronto, Canada
Mentor: Catherine Birken, MD, MSc, FRCPC
Understanding growth patterns and early markers of obesity in children with autism
Children with autism are at risk for obesity with increased body size seen as early as 5 years of age. However, there is little understanding of how the body weight of individuals with autism changes over time. Using hundreds of thousands of data points from children from birth to 19 years of age, the results of this study will be used to help identify periods when obesity may begin in kids with autism. The goal is to have more information to develop effective methods to help prevent obesity in ASD.
Emily Warren, PhD|Brown University
Mentor: Eric Morrow, MD, Phd
Molecular Mechanisms of 17q12 deletion syndrome: Developing a novel mouse model of polygenic ASD
Changes in expression in genes in a relatively large section of chromosome 17 have been associated with a variety of abnormalities in multiple organ systems, as well as neurodevelopmental disorders. This study will use an animal model to determine which genes on this area of chromosome 17 are
responsible for autism vs. other physical issues including kidney problems and diabetes. Further knowledge of the function of multiple genes on this region will help develop better targeted therapies
for autism based on genes on chromosome 17.
Zoe Hawks|Washington University School of Medicine at St. Louis
Mentor: John Pruett, MD, PhD
Testing candidate cerebellar presymptomatic biomarkers for autism
In order to develop better interventions for autism we need objective biomarkers to diagnose autism and to monitor treatment response. This fellow will investigate a cerebellum-based biomarker and an eye-tracking biomarker together, to see if they may be useful in clinical settings. These biomarkers might also be used to predict changes in features of autism across time, providing information about the course of autism symptoms across the lifespan.
Ileena Mitra|University of California at San Diego
Mentor: Melissa Gymrek, PhD
Interpreting the role of “short tandem repeats” in the genes of people with autism
By looking at the entire genetic sequence, researchers at UCSD have identified a specific type of mutation called “short tandem repeats” in brain tissue associated with neurodevelopmental disorders. This project will be the first to study the role of these short tandem repeats in autism spectrum
disorder. This will uncover new areas and types of genetic influences in autism and provide families with more accurate information about the potential heritable causes of ASD and the pathways involved.
Serena Tamura|University of California at San Francisco
Mentor: Nadav Ahituv, PhD
Activating the healthy copy of SCN2A as potential treatment for SCN2A haploinsufficiency in autism
About 0.3% of people with autism show mutations in the SCN2a receptor, with one type of mutation leading to autism and the other causing infantile seizures. Using an animal model, a specific gene therapy will be delivered to attempt to repair the unhealthy copy of the SCN2a gene. This may open
up new opportunities to treat autism.
Lisa Yankowitz|University of Pennsylvania
Mentor: Robert Schultz, PhD
Analyzing baby talk to better understand brain development in autism
Early analysis of cooing, crying and babbling in infants is helpful in identifying infants who are more likely to go on to receive a diagnosis of autism, which means this might be used as an early marker of ASD. This study will examine how these differences in early vocalizations are linked to brain development and language in toddlerhood. Because this study will include those without an autism diagnosis, it will also help predict those who may have autism as opposed to other language impairments.
Undergraduate Summer Research Grants:
Nathan Bliss | Baylor College of Medicine
Mentor: Hsiao-Tuan Chao, MD, PhD
A class of genes called teneurins has been shown to play a role in neuron development and neurodevelopmental disorders. Nathan and Dr. Chao will isolate the function of this gene in a fruit fly to determine its influence on cognitive behaviors and brain function. This will allow for better understanding on the role of this gene in autism spectrum disorder.
Kristen Enriquez | Yale University
Mentor: Ellen Hoffman, PhD
TBR1 is an autism risk gene on chromosome 2 that has only recently been identified. It is critical for proper wiring of brain regions associated with autism like the amygdala and the cortex. Using CRISPR technology, Kristen and Dr. Hoffman will use zebrafish to manipulate the expression of this gene in about 100 fish at a time, so that the role of the gene on both brain circuitry and behavior can be better understood. Zebrafish are an efficient model to screen for potential pharmaceutical interventions.
Emma McQueen | University of North Carolina at Chapel Hill
Mentor: Clare Harrop, PhD
Up to 50% of people with autism show symptoms of ADHD and individuals with both diagnoses require specialized interventions. However, not enough is known about the brain functioning of people with ASD and ADHD. Emma and Dr. Harrop will use advanced techniques to study brain activity during behavioral tasks to test the ability to switch between tasks. The goal of this project is to develop better biomarkers of these co-occurring conditions which will lead to better diagnoses of the disorders together and separately.
Nicholas Page | University of California, Los Angeles
Mentor: Daniel Geschwind, MD, PhD & Michael Gandal, MD, PhD
One of the many environmental exposures associated with an increased risk of autism is maternal immune infection during pregnancy. Early research in animal models suggests that this exposure influences gene expression differently in males and females. Under the direction of Drs. Gandal and Geschwind, Nicolas will examine the patterns of gene expression following maternal infection and identify genes that are normally expressed together in both male and female offspring. This will help explain the sex difference in diagnosis of ASD and identify specific genetic changes that lead to different genetic signals.