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Focus Areas

Advances in medicine are enabling individuals with IDD to live longer and, in some cases, more independently. Additionally, our growing understanding of some forms of IDD, like autism and even rare diseases like Batten disease, has provided broader insight into other disorders and their impact on cognitive function and learning and, in some cases, physical development. In an effort to build upon these findings, UR-IDDRC co-directors John Foxe, PhD, and Ania Majewska, PhD, have developed key focus areas of study within the center.


Rare and Orphaned Diseases of Neurodevelopment

Coordinator: Heather Adams PhD
Research involving movement disorders and rare neurodegenerative diseases. These conditions include dystonia, chorea, tics, myoclonus, tremor, stereotypies, and combinations of these that occur in conditions like cerebral palsy and other IDDs. Research focuses on understanding brain mechanisms involved in control of movement and when disorders cause involuntary movement. It also deploys neurophysiology, direct measurement of movement abnormalities, rating scales, and longitudinal assessments over the course of development and disease to this end. Research also focuses on cognitive, mood, and behavioral aspects of neurologic and neurodegenerative diseases. A major focus of research has been on children with the rare lysosomal storage disorders Neuronal Ceroid Lipofuscinoses (NCLs, known as Batten Disease), a set of inherited degenerative neurological disorders with devastating consequences for intellectual development and motor disability.


Parental Stress and Early Life Exposure as Determinants of Brain Development and Behavior

Coordinator: Tom O’Connor PhD Dept. of Psychiatry
There is substantial evidence that early, including in utero, exposures may have lasting influences on brain development; these findings pose major public health challenges as well as opportunities for intervention and prevention. Research in this area has shaped our thinking about neurodevelopment underlying IDDs and neuropsychiatric disorders as well as normative variation in neurobehavior and neurocognition. Our research in this area tackles mechanisms with broad impact, with particular focus on prenatal maternal inflammation and stress physiology and exposure to environmental chemicals. This program of study is highly trans-disciplinary, with input from neuroscientists, immunologists, pediatricians, obstetricians, and placenta pathologists. In addition to investigating candidate mechanisms, our research incorporates leading clinical and developmental methods in behavioral science and brain imaging, plus detailed consideration of effect modifiers, that is, those factors such as caregiving and nutrition that may promote brain health. Research studies in this area corral large-scale cohort studies and carefully obtained clinical samples from the UR and many collaborative sites.


Neuroinflammatory Mechanisms in Pathological Brain Development and Behavior

Coordinator: Ania Majewska PhD Dept. of Neuroscience
A large group of dedicated UR-IDDRC researchers aim to understand how glia contribute to IDD through diverse studies tackling the development of different glial populations, the contribution of glia to neural circuit assembly and remodeling, the effects of glia on neuroinflammatory signaling and downstream effects on brain function, and the interactions between brain-resident glia and the peripheral immune system. These studies focus on different glia types, including astrocytes, oligodendrocytes and microglia, and the contribution of these glial cells to normal development and IDD, using animal models of IDD, glia derived from iPSCs of patients with neurological disorders and in human populations. In parallel with these efforts, investigators also study the role of central and peripheral inflammatory pathways in brain function in both development and adulthood. The rich interactions between different investigators in this cluster lead to a multidisciplinary approach to understanding glia function in IDD.


Autism Spectrum Disorders

Coordinator: Susan Hyman MD, Director Developmental Pediatrics Division
University of Rochester has a wide network of investigators with long-standing and productive relationships with collaborators across the University, country, and broader world research communities. Current and recently completed ASD investigations include basic, translational, and applied research, with foci centered upon environmental and genetic determinants of ASD, phenotypic differences in persons with ASD, and behavioral interventions that promote independence for persons with ASD and their families. UR is part of NIH’s flagship ASD research program, the Autism Centers of Excellence, as well as a member of the Autism Treatment Network (ATN), and has one of the largest portfolios of NIH-funded ASD research in the United States. Through research sponsored by the Department of Defense, HRSA, IES, and private foundations (e.g., Autism Speaks), multidisciplinary teams are investigating the comparative efficacy of behavioral and psychopharmacological interventions for children and youth with ASD in home and community settings, sensory processing, neurobiology, genetic underpinnings, and related behavioral expression of ASD across the lifespan.


Sensory Motor and Multisensory Processing

Coordinator: Edmund Lalor PhD Depts. Biomedical Engineering and Neuroscience
Research involving sensation and perception, sensorimotor processing and the integration of information from multiple senses. This includes fundamental research at the levels of individual neurons, neuronal populations, and cortical circuits in animal models, as well as systems level investigations in humans using imaging and neurophysiology. Research focuses on different sensory systems with particular strengths in vision, audition, olfaction, somatosensation and vestibular processing, and on how information from multiple senses is integrated in the brain. Several groups also focus on how cognition impacts upon sensory, multisensory, and sensorimotor processing in complex and naturalistic environments. A common motivation across many labs is the elucidation of fundamental neural processes that might be affected in developmental and psychiatric disorders. This includes active ongoing research in sensory processing in several clinical populations and in animal models of several clinical disorders.