For children and families, an intellectual and developmental disabilities diagnosis is a life-altering event and, for many, a plunge into the unknown. “I've seen the concern for the patients in the eyes of a parent. I've seen what it means at the societal level to see what those kids’ lives look like, and I want that to stop. I want to make it better for them,” said John Foxe, Ph.D., director of the Intellectual and Developmental Disabilities Research Center and the Del Monte Institute for Neuroscience at the University of Rochester.
The effort to better understand these conditions and improve the lives of individuals and families impacted by an IDD diagnosis is at the heart of a decades-long collaboration between scientists and clinicians at the University. This work culminated in the recent award from the National Institute of Child Health and Human Development (NICHD) naming the University an Intellectual and Developmental Disabilities Research Center (IDDRC). The University of Rochester is one of 14 institutions to receive this recognition and one of only 10 with the “trifecta” of NIH awards related to IDD. The IDDRC joins the already established University Centers for Excellence in Developmental Disabilities Education, Research, and Service (UCEDD) – with a focus on training and service – and Leadership Education in Neurodevelopmental and Related Disabilities (LEND) – with a focus on education.
Collectively, these awards recognize the institution’s leadership in training, care, and community partnership. “We are very well positioned to care for and work with people and families impacted by developmental disabilities across a lifespan,” said pediatric neurologist Jonathan Mink, M.D., Ph.D., co-director of the IDDRC.
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, Foxe and Mink developed key focus areas of study within the center. One of the first areas considered was the impact of environmental toxins; University researchers were pioneers in describing the effects lead exposure has on development and health. Autism spectrum disorders, multi-sensory integration processing, parental stress, and early-life exposures to illicit drugs like opioids will also be the focus of the new Center’s research efforts.
Rare and Orphaned Diseases of Neurodevelopment
Coordinator: Heather Adams, Ph.D.
Research will focus on movement disorders like dystonia, chorea, tics, tremor, and the combinations of these symptoms that can occur in conditions like cerebral palsy and other IDDs. Researchers will seek to understand the brain mechanisms that control movement and when disorders cause involuntary movement. The cognitive, mood, and behavioral aspects of neurologic and neurodegenerative diseases will also be major areas of focus, particularly in children with Batten disease.
Parental Stress and Early Life Exposure as Determinants of Brain Development and Behavior
Coordinator: Tom O’Connor, Ph.D.
There is substantial evidence that exposures in utero and at a young age can have a lasting influence on brain development. Researchers will focus on prenatal maternal inflammation, stress physiology, and exposure to environmental chemicals, such as lead and narcotics. This research is trans-disciplinary and incorporates leading clinical and developmental methods in behavioral science and brain imaging, and how nutrition promotes brain health.
Neuroinflammatory Mechanisms in Pathological Brain Development and Behavior
Coordinator: Ania Majewska, Ph.D.
Researchers are investigating how glia – important and often overlooked support cells of the nervous system – contribute to IDD. Diverse studies are considering how glia develop, the signaling pathways that control glial cells impact on brain development and function, and the complex relationship between glia and the immune system.
Autism Spectrum Disorders
Coordinator: Susan Hyman, M.D.
Rochester is a national leader in autism research and home to innovative complex care clinical programs. It is part of the NIH’s flagship research program, the Autism Centers of Excellence, as well as a member of the Autism Treatment Network, and has one of the largest portfolios of NIH-funded autism spectrum disorders research in the nation. Researchers are investigating the comparative efficacy of behavioral and psychopharmacological interventions for children with autism in home and community settings, sensory processing, neurobiology, the genetic underpinnings of the condition, and related behavioral expression of autism into adulthood.
Sensory Motor and Multisensory Processing
Coordinator: Edmund Lalor, Ph.D.
Researchers are investigating how the brain processes sensory information and the impact of cognition, different environments, and how IDD can impact how the brain interprets sight, hearing, smell, taste, and touch. This work will build upon several long-standing research programs in sensory processing across clinical populations and in animal models of IDD.
New research tools are required to advance research in this field, along with the necessary expertise. The IDDRC has created four primary research cores to lend guidance and enhance the work brought in by investigators. These give the IDDRC a unique recruiting advantage. Mink points to how these resources support the development of new research. “This type of center helps provide an infrastructure so that researchers don’t have to assemble all the little parts themselves, rather it is all there for them to be able to work collaboratively.”
Collaboration is what gives the center a competitive edge. “We make sure that we have the very best people and that they're up to date with the state-of-the art technology and techniques in the field,” Foxe said.
Human Clinical Phenotyping and Recruitment
This core is central to clinical and translational research efforts. It will provide investigators with high quality phenotyping and clinical assessment services, along with comprehensive resources for research design consultation, subject recruitment, and investigator training. Researchers will have access to advanced biostatistics support, the neuroimaging capabilities of the Center for Advanced Brain Imaging and Neurophysiology (CABIN), the clinical resources of the Developmental and Behavioral Pediatrics Neurodevelopmental Assessment Suite and the Clinical Research Center in the Clinical & Translational Science Institute, previously one of the oldest General Clinical Research Centers funded by the NIH. The core will also develop an extensive training program for professionals at every level to improve their capacity for understanding and using phenotyping and clinical assessments across research settings and IDD diagnoses.
Translational Neuroimaging and Neurophysiology
This core will provide researchers access to state-of-the art human and animal neuro-imaging tools. This consists of ultra-high-density electrophysiologic recording facilities, including novel mobile brain/body imaging (MoBI) capabilities, and high performance (3T) functional and structural MRI facilities for both human and animal studies. A new small animal magnet (9.4T) will be available in 2021. Researchers will have access to equipment and expertise that will enable working with difficult-to-test children with IDD. This core will also develop and make accessible a repository of data related to normal development and disease states with the assistance of other IDDRC cores.
Cell and Molecular Imaging
Core Directors: Ania Majewska, Ph.D.; Edward Brown, Ph.D.
This core will provide advanced imaging, analysis, and viral vector-based transduction methods. The core also allows researchers to integrate cutting-edge methods and provides access to faculty expertise to support in vitro and in vivo study of the brain in humans and animal models. The capabilities will enable researchers to study subcellular, cellular, and systems-level processes and how these change across the lifespan.
Animal Behavior and Neurophysiology
IDD investigators will have access to equipment, technical and methodological support, analysis, and statistical guidance to conduct, generate, and interpret data in both behavioral and neurophysiological assays in rodent models. These resources will enable investigator to study the neural underpinnings of IDD.
The cores will elevate research and allow researchers to tackle complex scientific questions. “The cores open up a whole bunch of doors that wouldn't be there typically,” Foxe said. “It helps investigators to really fine tune the questions that they're asking. It definitely encourages them to think in more sophisticated ways about what it is they're doing and possibly help research move more quickly toward solutions.”
The ultimate goal is to harness these solutions to change the lives of patients and families by providing them access to the most recent scientific advances. The IDDRC’s research agenda will be closely integrated with the Medical Center’s Developmental and Behavioral Pediatrics, Child and Adult Neurology, Child and Adolescent Behavioral Health and Wellness, and the Complex Care Center clinical programs, which provide care for children and adolescents with a variety of neurodevelopmental and neurobehavioral conditions. The IDDRC will also conduct clinical research in the recently opened Golisano Behavioral Health and Wellness Building.
“This designation cements the University of Rochester Medical Center and the Del Monte Institute as a national leader,” said Ann Costello executive director of the Golisano Foundation. “Quite honestly, I knew they were a national leader and Rochester is a special place in terms of service and the network they provide. But now, with this designation, others will know that we are that national leader.”