CNDD research projects will study the genetic, molecular, cellular, and brain circuit mechanisms underlying risk and pathology of brain development disorders. By promoting excellence in basic and translational NDD-related research for both established investigators and early stage investigators, the CNDD will advance research capacity through the following key goals: 1) provide high-impact mentorship and training, 2) enhance relevant research infrastructure, and 3) support an interdisciplinary, collaborative research environment that brings together basic, translational, and clinical researchers at MUSC and across SC to improve the health and well-being of affected individuals. The CNDD will support 4-5 research projects developed by talented Research Project Leaders (RPLs) studying different aspects of neurodevelopment. The following research projects were selected based on CNDD thematic relevance, publication and grant track-record, and potential for successful transition to independence.
Current Research Projects:
Research Project 7: Rosmary Ros-Demarize, Ph.D.
Dr. Ros-Demarize’s CNDD project explores the feasibility of remote assessment across behavioral, neuropsychological, pathophysiological markers of self-regulation (i.e., executive functioning and emotion regulation) in children with Autism Spectrum Disorder (ASD) and disruptive behavior problems. A secondary focus of the study is to identify pathophysiological correlates of self-regulation in children with ASD. An exploratory aim of the project is to examine whether self-regulation markers are associated with ASD symptom presentation and diagnostic comorbidities (e.g., ADHD, oppositional defiant disorder, developmental delay).
Research Project 8: Arjun Bharioke, Ph.D.
Autism Spectrum Disorder (ASD) is increasing in prevalence in the US, affecting as many as 1 in 31 children. Many children with ASD suffer from disrupted sleep, and this has major effects on both their own development and on their care-givers. Dr. Bharioke’s research project addresses a fundamental knowledge gap in how genetic risk factors for ASD disrupt the formation of sleep-related circuitry.
Research Project 9: Jiaxing Li, Ph.D.
Dr. Li’s project will define how neuron–OPC synapses translate neuronal activity into myelin formation and determine how disruption of synaptic signaling may alter brain development and circuit function. By identifying Ca²⁺- and Neuroligin-3-dependent mechanisms regulating myelination, this research directly supports the CNDD’s mission to understand the cellular and molecular mechanisms underlying neurodevelopmental disorders and may reveal new therapeutic targets.
Research Project 10: Ewoud Schmidt, Ph.D.
Dr. Schmidt’s study will provide insights into the molecular mechanisms that shape IT-specific cortical connectivity and shed light on how Il1rapl2 contributes to the phenotypic expression of neurodevelopmental disorders.
Former Research Projects:
Research Project 1: Takashi Sato, Ph.D.
Dr. Sato’s innovative project focused on understanding the role of an NDD risk gene in GABAergic interneurons to influence prefrontal cortex circuit function and social behavior. Dr. Sato leveraged his cutting-edge in vivo calcium imaging expertise to assess PFC circuit function. Determining how ASD risk genes alter brain circuit and network function is critical for understanding disease mechanisms and future therapeutic development. Dr. Sato provided critical expertise in in vivo imaging technologies and data analysis for the growing NDD research community.
Research Project 2: Brent Wilkerson, Ph.D.
Dr. Wilkerson’s current research focuses on inner-ear development and hearing loss. His CNDD project explored the role of hearing impairments in autism-like behaviors in mice. There is a growing appreciation that NDD risk genes can produce symptoms through functions within the peripheral sensory systems, and changes in sound perception are commonly observed in ASD and related disorders. Dr. Wilkerson’s studies of inner ear development and function are important contributions to the overall scope of modern NDD research.
Research Project 3: Onder Albayram, PhD.
Dr. Albayram's project explored the role of the neuroimmune complement system in the disruption of neurotypical development produced by neonatal brain injury. His project provides molecular mechanistic insights and candidate therapeutic evaluation, which could lead to future treatments. Dr. Albayram provided the CNDD with an important translational research perspective and advanced knowledge of neuroimmune biology.
Research Project 4: Stefano Berto, Ph.D.
Dr. Berto has 10+ years of experience in bioinformatic and computational methods applied to next generation sequencings, and his CNDD project expanded upon an exciting discovery that the ASD and ID risk gene, IL1RAPL2, expression in temporal lobe co-vary with cortical oscillations associated with memory functions in human. He examined the novel functions of IL1RAPL2 in both a human iPSC-based model and in mutant mice to understand whether IL1RAPL2 affect behaviors and cortical neuronal circuits associated with both ASD and memory.
Research Project 5: Estefania Azevedo, Ph.D.
Dr. Azevedo project explored a possible link between early life stress and obesity. Neurodevelopmental disorders (NDD) affect the development of the nervous system, leading to abnormal brain function which may affect emotion and self-control. Obesity is an important co-morbidity of NDDs and is thought to arise from the impairment of important feeding-relevant circuits. Early life stress (ELS) can remodel feeding relevant circuits and contribute to obesity, yet the underlying mechanisms driving these changes are unknown
Research Project 6: Jose Ledo, Ph.D.
Dr. Ledo's research explored the role of microglial cells in neurodevelopmental and neuropsychiatric disorders, particularly focusing on habituation deficits induced by maternal immune activation (MIA). Novelty habituation, a fundamental form of behavioral plasticity where the response to a repeated stimulus diminishes over time, is often disrupted in conditions like autism spectrum disorders (ASD).
