Thanks to a $21.9 million grant from the late Bernie Marcus and The Marcus Foundation, Marcus Autism Center, a subsidiary of Children’s Healthcare of Atlanta, announced they will conduct the largest-ever study of behavior, brain and genomic biomarkers in children across the autism spectrum and associated genetic neurodevelopmental conditions to better understand what causes autism severity and elicits a treatment response in those with profound autism. The goal is to identify mechanisms that can be changed to optimize outcomes and generate new therapies. In a collaboration with Children’s Behavioral and Mental Health and Neurosciences Research Programs, Emory University School of Medicine’s Department of Human Genetics, and the Tri-Institutional Center for Translational Research in Neuroimaging and Data Science (TReNDS), 7,500 children from birth to 12-years of age will participate.

“The goal is to enable precision medicine interventions that will accelerate learning, make symptoms less severe and improve response to treatment in children with profound autism, and possibly even prevent profound disability from emerging in the first place,” said Ami Klin, PhD, Principal Investigator and Director of the Marcus Autism Center. “If successful, our research could usher in a new era of behavior-brain-genomic precision medicine to optimize outcomes of children in a community that cannot wait.”

Led by Dr. Klin, researchers at Marcus Autism Center will conduct an embedded pragmatic clinical trial occurring during regular clinical practice with findings integrated into standard-of-care services. Researchers will study children from birth, before symptoms emerge, as well as before and after treatment is delivered. The research will utilize multi-omic and behavioral neuroscience measures to discover key modifiable factors leading to profound autism.

“Most treatments we have right now are behaviorally based,” said Dr. Klin, who is also a Georgia Research Alliance Eminent Scholar, the Bernie Marcus Distinguished Chair in Autism, Professor and Division Chief of Autism and Developmental Disabilities at Emory University School of Medicine. "By studying profound autism at multiple levels—in behavior, brain networks, and basic biology—one of the key goals is to identify new biological targets for drugs and other therapies: to support learning and adaptability, to make symptoms less severe, and to promote better quality of life for children and families affected by profound autism.”

“This represents the largest scientific effort to date to study children with profound autism from infancy to early adolescence, and to develop actionable predictors that can improve treatment response, while personalizing treatments and developing new ones,” said Dr. Klin. “We hope to generate a moonshot factory of solutions for a community that carries the most severe symptoms of autism and has been under-represented in autism research.”

In the U.S., more than 2.3 million children have autism spectrum disorder (ASD), and more than a quarter of them, 620,000, have profound autism. Children with profound autism have severe to profound intellectual disabilities, limited to no verbal communication, and extreme challenges with daily living skills, typically requiring around-the-clock care and support.