Overview
Funding autism research is at the core of our mission.
We prioritize funding clever early-career investigators with cutting-edge ideas who need seed money to get their research off the ground. ASF pairs these researchers with established scientists who provide mentorship and training. The government and other funders have decreased funding for training grants, but we are committed to helping early-career scientists gather the initial data they need to attract major funding from the National Institutes of Health (NIH), all while encouraging the best and brightest researchers to dedicate their careers to autism.
Current Grantees
Profound Autism Predoctoral Grants
Joseph Boyle | University of California, Davis
Mentor: Christine Wu Nordahl
Understanding the Severity and Biology of Self-Injury in Profound Autism
Self-injurious behaviors (SIBs) are common in individuals with profound autism and significantly impact their quality of life. This research aims to identify the most predictive factors for SIB and to understand how features such as intellectual disability and language impairment contribute to these behaviors. By leveraging an extensive dataset of individuals with autism, the study will explore which brain regions are most impacted by SIB, paving the way for reducing these behaviors.
Profound Autism Pilot Grants
Boaz Barak, Ph.D., MBA | Tel Aviv University
Evaluating the efficacy of an FDA-approved drug to enhance myelination in the Shank3 mouse model of profound autism
The myelin sheath is a part of the brain cell that insulates, protects and regulates the cell, helping to ensure that the signal a brain cell receives can be transmitted to other cells. In previous work, Dr. Barak has shown that a mouse model of a form of profound autism called Phelan-McDermid Syndrome exhibits deficits in myelination. In this study he will attempt to reverse these cellular and behavioral impairments with a drug called 4-aminopyridine. This drug is used to treat myelin deficiencies in individuals with multiple sclerosis, but it has not yet been studied in neurodevelopmental disorders. Dr Barak will examine mylenation in brain cells after drug administration at different age points; social behavior, anxiety and motor skills will then be examined to determine the functional outcomes.
Ahmed Eltokhi, Ph.D. | Mercer University School of Medicine
Evaluating the Efficacy of Retigabine in Mouse Models of Profound Autism
This study will investigate the therapeutic potential of the drug Retigabine (Trobalt) in treating symptoms of profound autism in a mouse model with mutations in the SCN2A gene. These mutations cause frequent seizures, intellectual disability, and communication impairments. Retigabine, an anti-epileptic drug, has been shown to slow down overactive brain cell activity. By administering Retigabine during adolescence and adulthood in mice, this research will identify the optimal periods for treatment, potentially leading to new drug therapies for individuals with profound autism.
Sophie Molholm, Ph.D. | Albert Einstein College of Medicine, NY
Investigating the Roles of Altered Auditory Processing and Attentional Orienting to Speech in Profound Autism
This project will examine how individuals with profound autism respond to speech and sounds using non-invasive brain recordings. By comparing responses in individuals with profound and non-profound autism, the research aims to identify key differences in auditory and speech processing. The findings will inform the development of targeted interventions and therapies to improve communication and quality of life for individuals with profound autism. Additional support for this project is provided by the Urbieta Foundation.
Miriam Alice Shillingsburg, Ph.D. | Munroe-Meyer Institute, University of Nebraska Medical Center
Empowering Profound Autism Caregivers to Improve their Child’s Independence
Caregivers of children with profound autism often struggle to balance constant care with their own personal and social needs. This intervention will train caregivers to use picture-based activity schedules to improve their child’s independence. By assessing the effectiveness of this method through a randomized controlled trial, the study will provide valuable tools for caregivers, ultimately enhancing both the child’s independence and the family’s quality of life.
Marine Anais Krzisch | The School of Biomedical Sciences, University of Leeds, UK
Exploring the Role of Microglia in Fragile X Syndrome Using an In Vivo Human Induced Pluripotent Stem Cell-Based Model
Fragile X Syndrome, a genetic cause of profound autism, may involve overactive microglia—cells in the brain that support neural development and function. This study will use stem cells derived from individuals with Fragile X to investigate the role of microglia in neural connectivity and brain function. By examining how these cells interact with neurons in a mouse model, the research may reveal new pathways for intervention in profound autism. Additional support for this project is provided by FRAXA.
Undergraduate Summer Research Grants
Faith Chen | Brown University
Mentor: Sofia Lizarraga, Ph.D.
Sex-Specific Differences in Profound Autism Associated with ASH1L Pathogenic Variants
Profound autism affects 27% of the population diagnosed with autism spectrum disorders, but we know little about the underlying biology of profound autism. Patients with mutations in the chromatin regulator ASH1L present with a form of profound autism associated with variable degrees of intellectual disability and seizures. ASH1L promotes an open chromatin state and results in gene transcription in proper brain development. Clinical studies in a cohort of individuals presenting with ASH1L pathogenic variants suggest there are sex-specific differences in the clinical presentations. However, biological research around the sex-specific contributions of ASH1L to profound autism is lacking. This student will investigate how ASH1L variants influence the expression of genes that have high-risk variants associated with profound autism on the X chromosome.
Anila Russell-Hall | University of Pennsylvania
Mentor: Melanie Pellecchia, Ph.D., B.C.B.A.
The Impact of Racial and Ethnic Matching on Providers’ Use of Caregiver Coaching for Families with Autistic Children
In education and primary care, research suggests that race-ethnicity matching between practitioners and individuals, in which providers work with families from similar racial and ethnic backgrounds, results in improved satisfaction and outcomes. However, this issue has not been studied in autism intervention. This student will examine data from a randomized trial of 400 caregiver-clinician pairs to examine how racial-ethnic matching impacts providers’ use of caregiver coaching in an evidence-based autism intervention. The findings will help inform culturally responsive practices to best support autistic children from marginalized backgrounds.
Karina Sheth | University of South Carolina
Mentor: Abigail Hogan, Ph.D.
A Longitudinal Study of the Auditory Startle Reflex in Autistic Children
Although anxiety is a prevalent and debilitating co-occurring condition for autistic children, little is understood about early indicators of anxiety in this population. Non-autistic individuals with anxiety tend to exhibit an exaggerated auditory startle reflex, suggesting a hyper-responsive fear response system. In autistic children, however, the auditory startle reflex and its association with anxiety is poorly understood. Through analysis of existing longitudinal data, this student will investigate (a) the behavioral and physiological indicators of the auditory startle reflex, (b) how the auditory startle reflex changes across childhood, and (c) the relationship between the auditory startle reflex and anxiety. By improving understanding of the auditory startle reflex in autistic children, this research may inform efforts at early identification of anxiety risk and facilitate the development of targeted early interventions that would enhance functional outcomes for autistic individuals across the lifespan.
Darren Shiao | Stanford University
Mentor: Antonio Y. Hardan, M.D.
Examining the Value of Benadryl for Improving Sleep in Autistic Youth
Disrupted sleep affects 60% of autistic children, impacting mood and cognition. This student will use EEG and machine learning to identify sleep biomarkers in autistic youth and assess diphenhydramine’s (Benadryl) effects on sleep architecture. The student will collect resting-state EEG data and analyze activity linked to sleep disturbances. Diphenhydramine, an H1 antagonist, modestly improves sleep onset and duration but remains unstudied in autism spectrum disorder (ASD). This research aims to establish EEG biomarkers, evaluate pharmacological effects, and improve personalized sleep interventions for autistic individuals while reducing reliance on overnight sleep studies.
Suzanne Wright Accelerator Awards
Karen Chenausky, Ph.D., CCC-SLP | Massachusetts General Hospital
Using Remote Assessment to Understand the Relationship between Motor Abilities and Speech in Minimally Verbal Autistic Children
The factors that disrupt the normal acquisition of functional speech in minimally verbal children with autism remain unknown. Dr. Chenausky is currently using a computer-based biomechanical assessment tool to identify oromotor impairments in autism and determine if the severity of oromotor deficits predicts communication development. ASF Accelerator funds will extend and enrich the project by adding technology to enable data to be collected remotely, increasing the ease with which profoundly autistic children can participate. Two-dimensional facial movement will be collected by remote video technology in the home environment while a minimally verbal child is attempting to repeat syllables. The goal is to understand the extent to which motor ability, measured by online facial movement, contributes to speech and language production. This study builds on our understanding of how the facial motor system influences speech production. By including children with very little speech (who have specific difficulties in participating in in-person research), this project aims to help determine the mechanisms of minimally verbal autism.
Enrique Miguel Rodriguez de los Santos, Ph.D., and Michael Breen, Ph.D. | Icahn School of Medicine at Mount Sinai
Targeting DEAF1 to Restore Genetic Function in Profound Autism
About 20% of autism is caused by known mutations in rare genes. Doctors Rodriguez de los Santos and Breen are studying a new method for repairing autism-causing gene mutations using a technology called Site-directed RNA Editing (SDRE). This approach may offer advantages over current gene-editing methods. The team’s current work has shown SDRE to be a promising preclinical therapeutic approach and has identified mutations, such as the DEAF1 gene, that are suitable for SDRE. ASF Accelerator funds will enable the team to test DEAF1 as a target for RNA editing using SDRE, paving the way for more personalized therapies and treatments for genetically determined autism.