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William Brandler, PhD/Jonathan Sebat, PhD: University of California at San Diego
Uncovering the spectrum of de novo mutation in autism through whole genome sequencing
To date, genetic research has focused on the area of the DNA that codes for proteins. This project will expand the analysis further to identify potentially newareas on the genome that contribute to ASD risk.
Natasha Marrus, MD, PhD/John Constantino, MD: Washington University School of Medicine
Quantifying offspring ASD risk for unaffected sisters of males with ASD
As people with autism grow up, so do their siblings. This study will help us understand the risk of autism in the offspring of females who have a brother with ASD. It will help researchers understand the multiple risk factors associated with ASD, and enable them to make inferences regarding protective factors.
Daniel Nedelcu, PhD/Joshua Kaplan, PhD: Massachusetts General Hospital
Calcium channels as a core mechanism in the neurobiology of ASD
Calcium channel dysfunction underlies a number of disorders including ASD. By better describing the function of this part of the brain cell, researchers can improve upon treatments and understand more about risk factors for ASD.
Shuo Wang, PhD/Ralph Adolphs, PhD: California Institute of Technology
Investigating autism with direct intracranial recordings
Most studies can only indirectly assess the function of the brain in people with autism. This project is an unprecedented opportunity to understand the function of individual brain cells in people with autism and epilepsy while they are alive, to better tailor specific treatments.
Marissa Co/Genevieve Konopka, PhD: UT Southwestern Medical School
Genetics behind brain connectivity in ASD
Many of the genes known to be involved in autism regulate the connectivity between different brain regions. This study will focus on the molecular mechanism by which this regulation occurs, and will investigate whether that mechanism could be a target of intervention for ASD.
Jason Keil/Kenneth Kwan, PhD: University of Michigan
Brain somatic mosaicism at ASD-associated loci
In some rare cases, genetic mutations called copy number variations may be present in brain cells but not other cells, therefore making discovery of this mutation undetectable by existing methods. This project will study this phenomenon, called ‘mosaicism’, in an animal model, potentially improving genetic testing of ASD and increasing understanding of genetic risk factors.
Nathan Kopp/Joseph Doughtery, PhD: Washington University School of Medicine
A unified molecular mechanism explaining social behavior and oxytocin levels in ASD
Oxytocin has been shown (in preliminary studies) to improve some symptoms of autism, but little is known about how oxytocin levels are altered in individuals with ASD. This study will examine the mechanism by which oxytocin is regulated in a model of autism with the goal of improving therapies for ASD.
Rachel Zamzow/David Beversdorf, MD: University of Missouri
Combined effects of early behavioral intervention and propranolol on ASD
Anxiety is a serious and debilitating comorbid symptom in ASD. This study will investigate whether simultaneous treatment with anti-anxiety medication propranolol can improve the effectiveness of behavioral interventions for autism.
Rachel Greene/Dr. Garret Stuber and Dr. Gabriel Dichter: University of North Carolina at Chapel Hill
The effects of oxytocin on functional neural connectivity in autism
Studies in 2015 showed that intranasal oxytocin may be helpful in treating some symptoms of ASD. Ms. Greene will be using data from an oxytocin clinical trial to understand how different regions of the brain regulate the rewarding aspects of social cues in people with autism and to determine if oxytocin affects these brain regions. If successful, this project will reveal the potential mechanisms of action of a novel ASD therapeutic agent and provide a new neural target by which to evaluate future promising ASD treatments.
Maya Mosner/Dr. Edward Brodkin and Dr. Gabriel Dichter: University of North Carolina at Chapel Hill
Using experience sampling to evaluate the effects of social skills treatment
Current research study environments may not reflect functioning in real life situations. This project will pilot a new method of data collection, called “experience sampling,” which will allow researchers to improve studies that investigate interventions where context and setting are important.
Undergraduate Summer Research Awards:
Mentor: Theo Palmer, PhD, Stanford University
Researchers are starting to study the combined effects of genetic mutations plus environmental factors during pregnancy. In this project, Megan will examine the role of maternal immune infection, a known risk factor for autism, in animals who have a mutation in a known autism risk gene called GABAR. This will help scientists understand the mechanism by which both genetic and environmental factors work together to increase risk for ASD, potentially leading to preventative strategies.
Mentor: Fred Volkmar, PhD, Yale University
Jordan will be participating in a follow-up study of adults with autism, which includes an analysis of depression and bullying. His project will also be studying how the new category of autism related diagnosis called “social-communication disorder” overlaps with what was previously known as Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS). This project will also illuminate the potential impact of changes to the DSM5 made last year and document psychiatric and social challenges of individuals with ASD.
Mentor: James McPartland, PhD, Yale University
Researchers are now using real-time EEG imaging to study factors affecting brain development during infancy and early childhood. Timothy will examine the resting EEG of infants with an older sibling with autism in the hopes of developing a new diagnostic biomarker for ASD.
Mentor: Scott Dindot, PhD, Texas A&M University
Individuals with mutations on chromosome 15 show high rates of autism symptoms. Dylan will be studying brain expression of a gene called UBE3A which is located on chromosome 15 – providing information on a potential new therapeutic target.
Mentor, Ty Vernon, PhD, University of California Santa Barbara
Real-time FMRI brain imaging is helping us understand how therapy brings about real changes in the brain and has allowed researchers to begin to predict how people will respond to specific therapies. Zachary will examine how brains in children with autism are activated, or not activated, in real time, during different tasks so that future autism interventions can be specifically tailored and personalized based on an individual’s personal brain function.