ASF Awards 2022 Pre- and Postdoctoral Fellowships to Nine Early-Career Researchers

Grants will fund studies that are expected to increase our basic understanding of autism and explore ways to improve quality of life

NEW YORK — April 19, 2022 — The Autism Science Foundation (ASF), a nonprofit organization dedicated to funding innovative autism research and supporting families facing autism, today announced the recipients of its annual pre- and postdoctoral fellowship grants. Seven predoctoral and two postdoctoral fellowship grants will be awarded to students for their novel project proposals, ranging from understanding sex-based differences in autism to assessing depression in
minimally verbal autistic adults.

“In our ongoing effort to support early-career autism scientists, we are incredibly proud to fund the research initiatives proposed by this year’s impressive group of pre- and postdoctoral grantees,” said Autism Science Foundation Chief Science Officer Dr. Alycia Halladay. “At ASF, we recognize the immense value in ensuring that we foster the next generation of researchers, whose passion and dedication will continue to propel the field forward and whose work is poised to tangibly improve the lives of people with autism.”

“These nine innovative studies will help bring us closer to understanding the causes of autism and to developing better treatments,” said ASF Co-Founder and President Alison Singer. “The ASF team worked closely with our world-class Scientific Advisory Board to identify research projects that address the issues important to the families we serve. This important work would not be possible without the support of our donors. We are exceptionally grateful for their continued generosity, which allowed us to increase the funding levels for each of these awards this year.”

Since its founding in 2009, the Autism Science Foundation has funded more than $5 million in grants that have resulted in breakthroughs that have made a demonstrably positive impact on the lives of people with autism. Throughout the pandemic, ASF funded 13 new research grants aimed at understanding the unique effects of COVID-19 on people with autism. Additionally, in the past year ASF has also funded the ‘Next Gen Sibs’ research project to aid and better understand the
children of typically developing siblings, four new ‘Baby Siblings Research Consortium’ grants and five new undergraduate research grants. ASF is also currently accepting applications for its newly renamed Suzanne Wright Memorial Accelerator Awards through June 14.

The following pre- and postdoctoral projects were selected for spring 2022 funding:

PREDOCTORAL FELLOWSHIP GRANT RECIPIENTS:

Rett Syndrome is caused by a mutation on the X chromosome at MeCP2. Girls with Rett Syndrome share many features of autism, including delayed or lack of language development, impaired fine motor skills, repetitive behaviors and cognitive disability. MeCP2 activity is also regulated by environmental factors and has been implicated in autism when a genetic cause has not been identified. This fellow will look closely at changes in MeCP2 binding and how it regulates gene
expression by isolating different types of neurons at different ages to determine which are critical in the progression of symptoms. The fellow will also employ a sophisticated analysis of machine learning techniques to integrate the data to predict how MeCP2 activity regulates different neuron types at different points in development. This will allow scientists to move closer to providing patients with targeted approaches to interventions. Rett Syndrome Research Trust is partnering with ASF to provide funding for this grant.

Oversensitivity to touch is common in autism and can lead to discomfort and harm. In some cases, people with autism avoid other people’s touch but seek out tactile stimulation through self- stimulatory behaviors. Self-stimulation can be anything from finger tapping to headbanging, which is harmful and dangerous. While the differences in the brain’s response to different types of touch have been studied in neurotypical people, there is little information on the different responses in people with autism. This fellow will examine how the autistic brain responds to different types of touch, ultimately providing a biological basis for determining why some touch is avoided while some is sought out, which could improve therapy for dangerous self-stimulatory behaviors.

Recent research has implicated the gene PTCHD1 on the X chromosome as contributing to the causes of autism and intellectual disability, but there is still very little known about what it does and how it leads to changes in the brain. This project will be the first-ever attempt to determine the function of the PTCHD1 protein in its natural biological setting. Cells will be manipulated to create mutations in PTCHD1, then turned into neurons, and then the proteins that are expressed will be
measured. Finally, the fellow will measure how these proteins interact in the brain. This will enhance our understanding of how this gene interacts with the rest of the brain and expand the range of therapeutic approaches intended to target specific types of dysfunction in people with autism.

Autism has a well-established and prominent 4:1 male: female bias in diagnosis, but the biological basis for this difference remains unknown. One possible theory is that the presence of estrogen may play a role in the activity of brain cells that turn neurons on or off, which is part of the “excitation/inhibition” theory in autism. To test this theory, this fellow will create different types of neurons using induced pluripotent stem cells from both males and females with autism, with and without a rare genetic variation in an autism gene called neurexin. Then, estrogen will be applied to these cells and gene expression and functioning of different cell types will be compared. This gene-by-environment study will help identify the role of estrogen during development as a component in the later biological and behavioral features of females compared to males with autism.

Siblings have the potential to shape the developmental trajectories of individuals with autism. Early studies have shown the positive impact that a sibling can have on the outcome of an autistic brother or sister. However, these studies were unable to identify which particular aspects of being a sibling contribute most to this effect. This study will leverage existing data from about 5,000 families across multiple longitudinal studies to understand the role of a sibling in longer-term adaptive behavior, and to better identify specific factors that may influence this benefit. Findings from this research may inform intervention planning to maximize adaptive skill development across time and optimize outcomes in those with autism. The results may also provide important insight into the needs of undiagnosed siblings who may themselves need support.

More and more evidence is pointing to sex-related differences in gene expression as a potential explanation of the male sex bias in autism diagnosis. This study will examine the role of a gene called MYT1L that has been linked to autism. Mouse models will examine the expression of this gene in the cortex (where there is no evidence of a sex difference in expression of MYT1L) and compare it to expression in the hypothalamus (where there are sex-specific differences linked to social behaviors). The fellow will also examine social learning in males and females and count neurons to look for both behavioral and cellular changes. This will determine where in the brain sex-differential effects in social behavior originate, providing evidence for more targeted intervention strategies in males and females with autism.

Despite awareness that depression is common in autistic people, the mental health of minimally verbal (MV) autistic adults has received inadequate attention. Part of the problem is the lack of valid tools to assess depression in MV autistic adults. This study will investigate the utility and appropriateness of using surveys administered by a caregiver around depression and will gather information about behaviors that caregivers believe reflect low mood or depression. This project addresses a gap in mental health supports for MV autistic adults and will assist clinicians in determining which tools should be used for people with autism who show signs of depression but cannot verbally communicate their feelings.

POSTDOCTORAL FELLOWSHIP GRANT RECIPIENTS:

Genetic testing is recommended for all children with autism. However, many children receive test results that reveal mutations in genes that have not yet been associated with autism. Unfortunately, these variants of uncertain significance can cause confusion and problems for parents seeking clinical diagnoses and support. This study will utilize machine learning to integrate genetic findings with the child’s attainment of key developmental milestones, because often milestone delays are associated with rare genetic disorders. Eventually, this research could lead to a brief, low-cost clinical prediction tool that increases the diagnostic certainty of genetic testing in autism.

Even in cases of autism with a known genetic mutation, there can be differences in the presentation of symptoms, which is also known as “phenotypic heterogeneity.” One way to measure this variability across individuals with autism is by examining brainwave patterns. Earlier research in people with Fragile X Syndrome has shown that individuals have different patterns of brainwave activity, which may predict their response to treatments. Building on this research, the fellow will collect cells from individuals with Fragile X Syndrome and turn them into neurons. These cells will then be tested for their own electrical activity, validating the brainwave data collected earlier. This study will then take the research a step further by examining if and how different therapeutics affect these neurons in different ways, leading to more targeted therapeutics.

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About the Autism Science Foundation
The Autism Science Foundation (ASF) is a 501(c) (3) public charity. Its mission is to support autism research by providing funding to scientists and organizations conducting autism research. ASF also provides information about autism to the general public and serves to increase awareness of autism spectrum disorders and the needs of individuals and families affected by autism. To learn more about the Autism Science Foundation or to make a donation, visit www.autismsciencefoundation.org.