The long-term goal of the Autism, a Precision Medicine Approach initiative is to develop and test protocols for the use of genomic information in the diagnosis and clinical care of children with Autism Spectrum Disorders (ASDs) and related neurodevelopmental disorders. In addition to the use of genetic markers, studies under this initiative will be aimed at identifying and making use of biomarkers of core symptoms of ASDs so as to improve our abilities to measure the response of young children affected by ASDs to interventions.
The Rhode Island Consortium for Autism Research and Treatment (RI-CART), comprising physicians, scientists, service providers, educators, and parents has as its foundation a strong belief that the best way to create healthier, happier lives for individuals with ASDs is to expand our knowledge. RI-CART addresses its mission through widespread, rigorous testing; collaborative, creative research; and inclusive, data-driven education and advocacy. A key component of RI-CART is the development of a registry of children and families affected by ASDs together with the collection of biological samples.
Emerging evidence supports the notion that a large number of rare and distinct genetic changes contribute to the development of a subset of autism and related disorders; however, further research is needed to gain a better understanding of the genetics of ASDs. The RI-CART registry and associated biological samples will aid in our abilities to gain insights into the genetics of ASDs and to develop individualized interventions.
Enrollment in the RI-CART registry is growing. The support of the HCHII will contribute to the establishment of a unique foundational resource in the area of an ASD precision medicine program that integrates genomic information into clinical care. There will be specific attention to developing studies to understand family responses to genetic testing and the utility of genetic testing and other biomarker studies in ongoing clinical care. Families will then be followed annually to assess the clinical and life course.
The assessments and follow-up will be part of a cutting-edge research agenda to identify genetic and epigenetic markers, as well as other objective biomarkers, that can help predict outcomes and guide individualized approaches to treatment of children with ASDs. There will also be an emphasis on development of infrastructure for research into specific rare genetic disorders associated with autism symptoms. Select genetic conditions will be emphasized and a new model of research in the realm of rare genetic conditions with autism symptoms will be developed. With regard to biomarkers, there will be an emphasis on identifying improved and sensitive measures of social engagement, social responsiveness and emotion regulation, and testing these in relation to behavioral changes over time. Together, information from genetics and biomarkers will impact our ability to provide more individualized care for individuals with ASDs and related neurodevelopmental disorders.
Eric Morrow, MD, PhD | Associate Professor of Biology, Associate Professor of Psychiatry
Stephen Sheinkopf, PhD | Assistant Professor of Psychiatry and Human Behavior (Research), Assistant Professor of Pediatrics (Research)
Studies that will be incorporated into the Hassenfeld Autism Initiative:
- Rhode Island Collaborative for Autism Research and Treatment (RI-CART)
- Study of ASD-related rare genetic and neurodevelopmental disorders
- Physiology of Emotion, Behavior, and Engagement (for Children)
- Physiological Responses and Observations (for young adults)
- Studies in cells derived from patients with developmental disorders
Studies utilizing the RI-CART registry underway by HCHII collaborators:
- A Randomized, Sham-Controlled Trial Evaluating the Safety and Effectiveness of NeuroStar Transcranial Magnetic Stimulation (TMS) Therapy in Depressed Adolescents
- Autism & Development Disorders Inpatient Research Collaborative (ADDIRC)
- Neuroimaging and Neurostimulation Methods for the Study of Excitation/Inhibition Balance in Autism Spectrum Disorders
- Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders