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College of Arts & Sciences
South Carolina Autism and Neurodevelopmental Disorders Consortium (SCAND)


Faculty Affiliates

Faculty Affiliates, Research Areas, and Representative Publications

 

Jennifer Bisson, Ph.D.   Lecturer, Clemson University 

Dr. Bisson received her Ph.D in Developmental Psychology and a Quantitative Research Methods Certification from the University of Connecticut in 2013. She is currently a Lecturer in the Department of Psychology at Clemson University. For her teaching effort, she has been awarded the University of Connecticut's Outstanding Teaching Award and the Dean's Award for Student Engagement from Clemson University.

Research Focus: 
Her research focuses on the etiologies, symptoms, and perceptions of autism spectrum disorder using theory and methods from social psychology, psychophysiology, cognitive science and neuroscience. Dr. Bisson also has expertise in multivariate statistics and advanced statistical techniques used to track change over time. Currently, her lab is exploring cross cultural differences in perceptions of autism spectrum disorder, factors that predict person first language in academic writing, and differences in object use in individuals with autism.

 

Jessica Bradshaw, Ph.D.   Lecturer, University of South Carolina

Dr. Bradshaw received her PhD in Clinical, Counseling, and School Psychology from the University of California, Santa Barbara after which time she completed her postdoctoral work at the Marcus Autism Center, Emory University School of Medicine. She has been involved in autism research since her undergraduate work in Cognitive Science at the University of California, San Diego and her post-baccalaureate work at the Yale Child Study Center.

Research Focus: 
Dr. Bradshaw’s research focuses on early identification and intervention of autism spectrum disorder (ASD) in the first years of life. Specifically, she is interested in: 1) quantifying the emergence of, and interrelations between, social behavior, visual attention, and motor skills in neonates, infants, and toddlers, 2) identifying aberrant neurodevelopmental pathways that lead to the emergence of autism spectrum disorder (ASD), and 3) translating these basic findings to early detection and intervention strategies for ASD. She uses behavioral, eye tracking, and physiological methods to map early neurobehavioral development and identify pivotal transitions that occur between birth and 12 months of age, with a particular interest in birth through 5 months. In the context of longitudinal research designs with infants at risk for ASD, she aims to understand how disruption during these early developmental periods may have cascading consequences on the development of social communication.

  • Bradshaw, J., Klaiman, C., Gillespie, S., Brane, N., Lewis, M., Saulnier, C. (2018). Walking Ability is Associated with Social-Communication Skills in Infants at High Risk for Autism Spectrum Disorder. Infancy. doi: 10.1111/infa.12242
  • Bradshaw, J., Bearss, K., McCracken, C., Smith, T., Johnson, C., Lecavalier, L., Swiezy, N., Scahill, L. (2017). Parent Education for Young Children with Autism and Disruptive Behavior: Response to Active Control Treatment. Journal of Clinical Child and Adolescent Psychology. doi: 10.1080/15374416.2017.1381913.

 

Luigi Boccuto, M.D.   Assistant Research Scientist, Greenwood Genetic Center

Dr. Boccuto is a clinical geneticist who trained for several years under Professor Neri in Rome with a focus on hereditary cancer, overgrowth syndromes and intellectual disability (ID) syndromes. Dr. Boccuto is currently an assistant research scientist at the JC Self Research Institute of the Greenwood Genetic Center.

Research Focus: 
His main projects are focused on the study of the genetic causes of autism, ID, and conditions with segmental or generalized overgrowth. He is also characterizing the metabolic profiles of cells from patients with autism, ID, and overgrowth, as well as mental disorders such as schizophrenia, ADD/ADHD, and Tourette syndrome.

  • Boccuto, L., Aoki, K., Flanagan-Steet, H., Chen, C., Fan, X., Bartel, F., . . . Schwartz, C. E. (2013). A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. Human Molecular Genetics,23(2), 418-433. doi:10.1093/hmg/ddt434

  • Boccuto, L., Chen, C., Pittman, A. R., Skinner, C. D., Mccartney, H. J., Jones, K., . . . Schwartz, C. E. (2013). Decreased tryptophan metabolism in patients with autism spectrum disorders. Molecular Autism,4(1), 16. doi:10.1186/2040-2392-4-16

  • Boccuto, L., Lauri, M., Sarasua, S. M., Skinner, C. D., Buccella, D., Dwivedi, A., . . . Schwartz, C. E. (2012). Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. European Journal of Human Genetics,21(3), 310-316. doi:10.1038/ejhg.2012.175

 

Manuel F. Casanova, M.D.   State Endowed Chair in Translational Childhood Neurotherapeutics, University Of South Carolina School Of Medicine, Greenville Health System

Dr. Casanova belonged to the founding board of the National Alliance for Autism Research (now Autism Speaks) and the Autism Tissue Board. He has served on the Board of Directors or Scientific Advisory Board of numerous organizations (e.g., Autism Research Institute, Generation Rescue, On Mental Health, Families for Effective Autism Treatment, Clearly Present Foundation) and is presently on the editorial board of fifteen different medical journals. 

Research Focus:

  • Casanova, M. F., Sokhadze, E., Opris, I., Wang, Y., & Li, X. (2015). Autism spectrum disorders: linking neuropathological findings to treatment with transcranial magnetic stimulation. Acta Paediatrica,104(4), 346-355. doi:10.1111/apa.12943

  • Casanova, M. F., Hensley, M. K., Sokhadze, E. M., El-Baz, A. S., Wang, Y., Li, X., & Sears, L. (2014). Effects of weekly low-frequency rTMS on autonomic measures in children with autism spectrum disorder. Frontiers in Human Neuroscience,8. doi:10.3389/fnhum.2014.00851

 

Emily Casanova Ph.D.   Postdoctoral Fellow, University of South Carolina School of Medicine Greenville, Biomedical Sciences

Dr. Casanova earned her doctorate in Anatomy Science & Neurobiology from the University of Louisville’s Medical School. She is currently a Postdoctoral Fellow with the University of South Carolina Medical School at Greenville, working in close conjunction with the Greenville Health System’s (GHS) Departments of Psychology and Developmental-Behavioral Pediatrics in the Department of Pediatrics. She has research background in embryology, genetics, neuropathology, and bioinformatics, with particular focus on neurodevelopmental conditions and a strong emphasis on autism.

Research Focus: 
Her current research foci/topics of interest include: 1) functional classification of high-risk autism genes 2) the study of the neuropathology of autism and related conditions 3) the characterization of genomic features common to autism risk genes and those genes’ roles in vertebrate evolution and 4) the cell stress response in autism spectrum conditions. She blogs at Science Over a Cuppa.

  • Casanova, E. L., Sharp, J. L., Chakraborty, H., Sumi, N. S., & Casanova, M. F. (2016). Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression. Molecular Autism,7(1). doi:10.1186/s13229-016-0082-z

  • Casanova, E. L., & Casanova, M. F. (2014). Genetics studies indicate that neural induction and early neuronal maturation are disturbed in autism. Frontiers in Cellular Neuroscience,8. doi:10.3389/fncel.2014.00397

 

Christopher Cowan, Ph.D.   Professor and Vice Chair, Department of Neuroscience, Medical University of South Carolina; William E. Murray SmartState Endowed Chair in Neuroscience

Dr. Cowan joined the Medical University of South Carolina as the William E. Murray SmartState Endowed Chair in Neuroscience and as Vice-Chair of the Department of Neurosciences in 2016. Previously, Dr. Cowan was an Associate Professor of Psychiatry at Harvard Medical School and McLean Hospital where he served as the Director of the Integrative Neurobiology Laboratory and Director of Education for the Basic Neuroscience Division.

Research Focus: 
Dr. Cowan’s research laboratory explores the genes and molecular mechanisms that control proper brain wiring during development, and they seek to understand the roles of these molecules in the young and adult brain under pathological conditions, such as autism, intellectual disability, drug addiction, and depression. The lab utilizes a broad array of experimental approaches to gain a better understanding about the underlying regulation or dysregulation of typical brain function, and they take an integrated, multidisciplinary approach to address these important topics for human mental health.

  • Harrington, A.J., Raissi, A., Kumar, J., Rajkovich, K., Raduazzo, J., Guo, Y., Loerwald, K., Huber, K.A., Cowan, C.W.  MEF2C regulates cortical inhibitory and excitatory synapses and behaviors relevant to neurodevelopmental disorders.  eLife, 10.7554/eLife.20059 (2016).

  • Smith, L.N., Jedynak, J.P., Fontenot, M.R., Hale, C.F., Dietz, K.C., Taniguchi, M., Thomas, F.S., Zirlin, B.C., Birnbaum, S.G., Huber, K.M., Thomas, M.J., Cowan, C.W.  Fragile X Mental Retardation Protein regulates synaptic and behavioral plasticity to repeated cocaine administration. Neuron, 82(3): 645-58 (2014).     

  • Tsai, N.-P., Wilkerson, J.R., Guo, W., Maksimova, M., DeMartino, G.N., Cowan, C.W., Huber, K.M.  Multiple autism-linked genes mediate synapse elimination via proteasomal degradation of a synaptic scaffold PSD-95. Cell, 151(7): 1581-94 (2012).

 

Norma Frizell, Ph.D.   Assistant Professor, Dept. of Pharmacology, Physiology & Neuroscience, University of South Carolina School of Medicine

Dr. Frizell of the Pharmacology, Physiology & Neuroscience lab at USC School of Medicine received her postdoctoral training at the University of Ulsters, N. Ireland and the University of South Carolina.  She received her Ph.D. from The Queens University of Belfast, N. Ireland.

Research Focus: 
Her laboratory is interested in a recently discovered post-translational modification of proteins known as S-(2-succino)cysteine (2SC), also termed protein succination. Protein succination occurs when fumarate (from the Krebs cycle) reacts with cysteines to form the irreversible modification 2SC.  While they have studied this modification extensively in the adipocyte during diabetes, they are also interested in other conditions which lead to increased fumarate – including cancers derived from mutations in the gene for fumarate hydratase.

  • Tanis, R. M., Piroli, G. G., Day, S. D., & Frizzell, N. (2015). The effect of glucose concentration and sodium phenylbutyrate treatment on mitochondrial bioenergetics and ER stress in 3T3-L1 adipocytes. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research,1853(1), 213-221. doi:10.1016/j.bbamcr.2014.10.012

  • Piroli, G., Manuel, A., Walla, M., Jepson, M., Brock, J. C., Rajesh, M., . . . Frizzell, N. (2014). Identification of protein succination as a novel modification of tubulin. Biochemical Journal,462(2), 231-245. doi:10.1042/bj20131581

 

Jane Joseph,Ph.D.   Professor of Neurosciences/Neurosciences Research, Medical University of South Carolina

Dr. Joseph received her Ph.D. in Psychology from the University of Virginia where she studied the role of color in object recognition under the mentorship of Dr. Dennis Proffitt. For her postdoctoral training, she worked with Dr. Rhonda Friedman and Dr. Guinevere Eden at Georgetown University.

Research Focus:
Her research interests are fairly broad within the discipline of cognitive neuroscience and she collaborates with individuals in several different departments and colleges at the University of Kentucky and the Medical University of South Carolina. Dr. Joseph’s lab has been and continues to be funded by grants from the National Science Foundation, the National Institutes of Health, and Autism Speaks. 

  • Joseph, J. E., Zhu, X., Lynam, D., & Kelly, T. H. (2016). Modulation of meso-limbic reward processing by motivational tendencies in young adolescents and adults. NeuroImage,129, 40-54. doi:10.1016/j.neuroimage.2015.12.005 

  • Joseph, J. E., Dibartolo, M. D., & Bhatt, R. S. (2015). Developmental changes in analytic and holistic processes in face perception. Frontiers in Psychology,6. doi:10.3389/fpsyg.2015.01165

  • Joseph, J. E., Zhu, X., Gundran, A., Davies, F., Clark, J. D., Ruble, L., . . . Bhatt, R. S. (2014). Typical and Atypical Neurodevelopment for Face Specialization: An fMRI Study. Journal of Autism and Developmental Disorders,45(6), 1725-1741. doi:10.1007/s10803-014-2330-4

 

Walter E. Kaufmann, M.D.   Ravenel Boykin Curry Chair in Genetic Therapeutics, Greenwood Genetic Center

Dr. Kaufmann joined the Greenwood Genetic Center in 2015 as the Ravenel Boykin Curry Chair in Genetic Therapeutics with the goal of leading the Center's initiatives regarding the treatment of genetic disorders. Before arriving to the Greenwood Genetic Center, Dr. Kaufmann was a Professor of Neurology at Harvard Medical School and a Simons Investigator at Massachusetts Institute of Technology’s Simons Center for the Social Brain. 

Research Focus:
His research uses a multidisciplinary approach to understanding the basis of cognitive and behavioral problems in children with genetic disorders associated with intellectual disability and autism spectrum disorder, with an emphasis on developing new therapeutic interventions. Dr. Kaufmann’s work includes laboratory investigations of molecular pathways, neuroimaging, animal models of disease and clinical trials of targeted, disease-modifying therapies for Rett syndrome, fragile X syndrome, Down syndrome, and idiopathic autism spectrum disorder. 

  • Kaufmann, W. E. (2016). Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century. Current Neurology and Neuroscience Reports,16(12). doi:10.1007/s11910-016-0703-0

  • O’Leary, H. M., Marschik, P. B., Khwaja, O. S., Ho, E., Barnes, K. V., Clarkson, T. W., . . . Kaufmann, W. E. (2015). Detecting autonomic response to pain in Rett syndrome. Developmental Neurorehabilitation,20(2), 108-114. doi:10.3109/17518423.2015.1087437

  • Oberman, L. M., Boccuto, L., Cascio, L., Sarasua, S., & Kaufmann, W. E. (2015). Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations. Orphanet Journal of Rare Diseases,10(1). doi:10.1186/s13023-015-0323-9

 

Sofia Lizarraga, Ph.D.   Assistant Professor of Biological Sciences, University of South Carolina

Dr. Lizarraga's graduate training was in cytoskeletal mechanisms of cell division and her postdoctoral research was in disorders of neuronal development. During her postdoctoral work at Harvard Medical School, she conducted research on disorders associated with defects in brain size and neuronal connectivity.

Research Focus: 
Dr. Lizarraga’s research focuses on the mechanisms underlying the pathology of neurodevelopmental disorders. At USC, her laboratory is currently using human neurons derived from induced pluripotent stem cells (iPSC) obtained from Christianson syndrome patients (an autism related syndrome) to further elucidate mechanisms underlying the pathophysiology of autism. In particular, Dr. Lizarraga is investigating the role of endosomal Na+/H+ Exchanger (NHE) proteins in neuronal function.

  • Lizarraga, S., & Morrow, E. (2015). Uncovering a Role for SK2 in Angelman Syndrome. Cell Reports,12(3), 359-360. doi:10.1016/j.celrep.2015.07.009

  • Lizarraga, S. B., Coser, K. R., Sabbagh, M., & Morrow, E. M. (2012). Methods for Study of Neuronal Morphogenesis: Ex vivo RNAi Electroporation in Embryonic Murine Cerebral Cortex. Journal of Visualized Experiments, (63). doi:10.3791/3621

  • Lizarraga, S. B., Margossian, S. P., Harris, M. H., Campagna, D. R., Han, A., Blevins, S., . . . Fleming, M. D. (2010). Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. Journal of Cell Science,123(11). doi:10.1242/jcs.074617

 

Trudy Mackay

Trudy Mackay, Ph.D.   Professor, Department of Genetics and Biochemistry, Clemson University

Trudy Mackay is the Director of the Center for Human Genetics, the Self Family Endowed Chair of Human Genetics and Professor of Genetics and Biochemistry at Clemson University. Her laboratory focuses on understanding the genetic and environmental factors affecting variation in quantitative traits, using Drosophila as a translational model system. Her laboratory seeks to identify the genetic loci at which segregating and mutational variation occurs, allelic effects and environmental sensitivities, and the causal molecular variants. Her research utilizes mutagenesis to identify candidate genes and pathways, quantitative trait locus mapping of alleles segregating in nature, and systems genetics analyses to provide biological context and identify transcriptional and genetic networks affecting complex traits. She is a Fellow of the American Academy of Arts and Sciences and the Royal Society, a member of the US National Academy of Sciences, the 2016 Wolf Prize Laureate for Agriculture and the 2018 Dawson Prize recipient, Trinity College, Dublin.

Her laboratory derived the Drosophila melanogaster Genetic Reference Panel (DGRP), a community resource of ~200 inbred lines with full genome sequences. These lines have been used worldwide to understand the relationship between naturally occurring molecular variants and variation in genome wide gene expression and other intermediate molecular phenotypes, and organismal complex traits. Currently, her laboratory is extending the DGRP to 2,000 inbred sequenced lines, and using them to model rare and common human diseases and assess the impact of variants at the single cell level. Her laboratory is also performing whole genome short and long read sequencing on trios of patients with rare undiagnosed diseases and their parents to develop possible diagnosis, in collaboration with the Greenwood Genetic Center. All of these data sets require computationally intensive analyses.

 

David Mott, Ph.D.   Associate Professor, Dept. of Pharmacology, Physiology & Neuroscience, University of South Carolina School of Medicine

Dr. Mott received his Ph.D. from Duke University and his postdoctoral training at Duke University and Emory University.

Research Focus: 
Research in his laboratory is directed toward understanding how synaptic transmission between excitatory and inhibitory nerve cells in the brain is modified as a result of experience. They have focused on neurons in the limbic system, mostly the hippocampus. The hippocampus plays important roles in learning and memory, as well as in pathological conditions, such as epilepsy, schizophrenia and Alzheimer’s disease. They are investigating changes in synaptic transmission that occur in the hippocampus in temporal lobe epilepsy.

  • Mott, D. D., Grosenbaugh, D. K., & Fisher, J. L. (2013). Polytherapy with stiripentol: Consider more than just metabolic interactions. Epilepsy & Behavior,29(3), 585. doi:10.1016/j.yebeh.2013.09.008

  • Mcdonald, A. J., & Mott, D. D. (2016). Functional neuroanatomy of amygdalohippocampal interconnections and their role in learning and memory. Journal of Neuroscience Research,95(3), 797-820. doi:10.1002/jnr.23709

  • Grosenbaugh, D. K., & Mott, D. D. (2013). Stiripentol in refractory status epilepticus. Epilepsia,54, 103-105. doi:10.1111/epi.12291

 

Fabienne Poulain, Ph.D.   Assistant Professor of Biological Sciences, University of South Carolina

Dr. Poulain is originally from France and obtained her Ph.D. from the University Paris 6-Pierre et Marie Curie, studying the roles of microtubule-regulating protein stathmins in neuronal morphogenesis. She became convinced that observing axon growth directly in the embryo in vivo would provide invaluable insights on how axons integrate different signals from the environment to navigate properly. She joined the laboratories of Drs. Chi-Bin Chien and Joseph Yost at the University of Utah to study the roles of Heparan sulfate proteoglycans in axon guidance in vivo in zebrafish.  

Research Focus: 
Their research aims to understand the cellular and molecular mechanisms by which axon pathfinding and selective degeneration lead  to the formation of functional brain circuits. They are also developing new models to investigate the contribution of axon degeneration to neurodegenerative disorders such as Alzheimer's disease. They use zebrafish as a vertebrate model system and a unique combination of genetic, embryological and live imaging approaches to observe and manipulate axons  directly in the embryo in vivo. 

  • Poulain, F. E., & Yost, H. J. (2015). Heparan sulfate proteoglycans: a sugar code for vertebrate development? Development,142(20), 3456-3467. doi:10.1242/dev.098178

  • Poulain, F. E. (2014). Analyzing the Role of Heparan Sulfate Proteoglycans in Axon Guidance In Vivo in Zebrafish. Methods in Molecular Biology Glycosaminoglycans, 469-482. doi:10.1007/978-1-4939-1714-3_36

  • Poulain, F., & Chien, C. (2013). Proteoglycan-Mediated Axon Degeneration Corrects Pretarget Topographic Sorting Errors. Neuron,78(1), 49-56. doi:10.1016/j.neuron.2013.02.005

 

John Richards, Ph.D.   Carolina Distinguished Professor, Dept. of Psychology, University of South Carolina

Dr. Richards received his Ph.D. from the University of California, Los Angeles. At that time he became interested in the psychophysiology of attention. From UCLA Dr. Richards went directly to the Department of Psychology at the University of South Carolina.

Research Focus: 
Dr. Richards has expertise in infant attention, including laboratory observation measures, heart rate measures, behavioral coding, and brain measurements using EEG and MRI. He works primarily with infants in the first year (e.g., 3 to 12 months) and studies the relation between attention development and brain development.  His theoretical models about the development of sustained attention in infants are relativetly well known. He has special experise in structural MRI of infant participants and the use of realistic cortical source models for EEG and ERP in infants. 

  • Xie, W., & Richards, J. E. (2016). The Relation between Infant Covert Orienting, Sustained Attention and Brain Activity. Brain Topography. doi:10.1007/s10548-016-0505-3

  • Guy, M. W., Zieber, N., & Richards, J. E. (2016). The Cortical Development of Specialized Face Processing in Infancy. Child Development,87(5), 1581-1600. doi:10.1111/cdev.12543

  • Xie, W., & Richards, J. E. (2016). Effects of interstimulus intervals on behavioral, heart rate, and event-related potential indices of infant engagement and sustained attention.

  • Psychophysiology,53(8), 1128-1142. doi:10.1111/psyp.12670

 

Jane Roberts, Ph.D.   Professor of Psychology, University of South Carolina

Dr. Roberts received her Ph.D. from the University of North Carolina at Chapel Hill.  She then spent 10 years at UNC as a research investigator and scientist at the FPG Child Development Institute. Her work focuses on understanding the biological mechanisms that underlie cognitive and behavioral functioning in children and adults with neurodevelopmental disorders such as autism, fragile X syndrome, and AD/HD. Dr. Roberts joined the faculty at USC in 2008.

Research Focus: 
Dr. Roberts' current research focuses on:

- Developmental trajectories in infants and young children with autism spectrum disorder and fragile X syndrome
- Genetic and psychosocial contributions to mood and anxiety disorders in women with the fmr1 premutation
- Physiological arousal, anxiety and stress in young children with neurodevelopmental disorders

  • Tonnsen, B. L., Malone, P., Hatton, D. D., & Roberts, J. E. (2013). Early negative affect predicts anxiety, not autism, in preschool boys with fragile X syndrome, Journal of Abnormal Child Psychology, 41 (2), 267-280.

  •  Roberts, J.E., Hatton, D. D., Long, A.C., Anello, V., & Colombo, J. (2012). Visual attention and autistic behavior in infants with fragile X syndrome. Journal of Autism and Developmental Disorders, 42(6), 937-946.

 

Charles E. Schwartz, Ph.D.   Director of Research and Head of JC Self Research Institute, Greenwood Genetic Center

Dr. Schwartz received his Ph.D. in Biochemistry from Vanderbilt University in Nashville, Tennessee. His areas of expertise include molecular studies, X-linked intellectual disabilities (XLID), and split-hand/foot malformation. He is the Snior Research Scholar at the Greenwood Genetic Center, in addition to being the Director of Research and Head of the JC Self Research Institute. He is also an adjunct professor in the Department of Genetics and Biochemistry at Clemson University.

Research Focus:
Dr. Schwartz's research lab focuses on identifying genes responsible for XLID.  For the past 10 years, the lab has been conducting research on the genetic causes of Autism Spectrum Disorder (ASD). His lab was one of the first to identify alterations in NLNG4, Neurexin 1a and Neurexin 1b as being genes associated with ASD. More recently, his group has begun research projects involving genes associated with autosomal forms of intellectual disability and autism utilizing material available at GGC. 

  • Schwartz, C. E. (2016). Skewed X-inactivation and Females with Intellectual Disability. Human Mutation,37(8), 717-717. doi:10.1002/humu.23030

  • Friez, M. J., Brooks, S. S., Stevenson, R. E., Field, M., Basehore, M. J., Adès, L. C., . . . Schwartz, C. E. (2016). HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. BMJ Open,6(4). doi:10.1136/bmjopen-2015-009537

 

 

Deanna Smith, Ph.D.   Head MCDB, Professor of Biological Sciences, University of South Carolina 

Dr. Smith received her Ph.D from Stanford University. 

Research Focus: 
Her lab's current focus is on the importance of the adult mammalian nervous system and during colon carcinogenisis in mammals. She is interested in how a molecular motor protein called cytoplasmic dynein is regulated to carry out multifaceted and vital roles in a wide range of organisms. Two binding dynein proteins that the lab is most interested in are LIS1 and NUDEL, which in mammals are typically linked to brain development. 

  • Gao, F. J., Shi, L., Hines, T., Hebbar, S., Neufeld, K. L., & Smith, D. S. (2017). Insulin signaling regulates a functional interaction between Adenomatous Polyposis Coli (APC) and cytoplasmic dynein. Molecular Biology of the Cell. doi:10.1091/mbc.e16-07-0555

  • Gao, F. J., Hebbar, S., Gao, X. A., Alexander, M., Pandey, J. P., Walla, M. D., . . . Smith, D. S. (2015). GSK-3β Phosphorylation of Cytoplasmic Dynein Reduces Ndel1 Binding to Intermediate Chains and Alters Dynein Motility. Traffic,16(9), 941-961. doi:10.1111/tra.12304

  • Pandey, J. P., & Smith, D. S. (2011). A Cdk5-Dependent Switch Regulates Lis1/Ndel1/Dynein-Driven Organelle Transport in Adult Axons. Journal of Neuroscience,31(47), 17207-17219. doi:10.1523/jneurosci.4108-11.2011

 

Tato Sokhadze, Ph.D.   Research Professor, Department of Biological Sciences, University of South Carolina School of Medicine, Greenville Health System

Dr. Sokhadze received his Ph.D in Human Physiology from the Russian Academy of Medical Sciences in Russia. Afterwards, he worked as an invited scientist at Chungnum University in Taejon, South Korea. From there, he completed his postdoctoral fellowship in Psychopharmacology at Wake Forest University. In 2015 he joined the University of South Carolina School of Medicine-Greenville and Greenville Health System as a research professor of Biomedical Sciences and a member of GHS/USC-SOMG Center of Childhood Neurotherapeutics. Dr. Sokhadze is collaborating with Clemson University researchers targeting treatment of children with autism using TMS and biofeedback methods.  

Research Focus: 
Dr. Sokhadze's research primarily focuses on the application of EEG/ERP brain mapping, neurofeedback, TMS, sensory integration, and other applied psychophysiological techniques in psychiatric clinical research. Specific psychopathologies of interest are autism spectrum disorder, ADHD, bipolar disorder, comorbid conditions, substance abuse, and PTSD. 

  • Wang, Y., Li, X., Sears, L., Casanova, M., Tasman, A., and Sokhadze, E. A study of relative power of specific EEG bands and their ratios during neurofeedback training in children with autism spectrum disorder. Frontiers Human Neuroscience, 2016, 9:723

  • Hillard, B., El-Baz, A.S., Sears, L., Tasman, A., and Sokhadze, E.M.: Neurofeedback training aimed to improve focused attention and alertness in children with ADHD: A study of relative power of EEG rhythms using custom-made software application. Clinical EEG Neuroscience. 44(3):193-202, 2013.

  • Sokhadze, E.M., El-Baz, A.S., Sears, L.L., Opris, I., and Casanova, M.F.: rTMS neuromodulation improves electrocortical functional measures of information processing and behavioral responses in autism. Frontiers System Neuroscience. 8:134, 2014. PMID: 25147508

 

Anand Srivastava, Ph.D.   Adjunct Research Professor, Department of Genetics and Biochemistry, Clemson University; Clinical Professor, Clemson University School of Health Research

Dr. Srivastava received his Ph.D. in Biochemistry from Banaras Hindu University in Varanasi, India. 

Research Focus: 
Dr. Srivastava's primary focuses are in X-linked intellectual disabilities and molecular studies. The research group's interest is to understand the itiology of inherited developmental disorders of the central nervous system (brain development and function). His approach is to identify and characterize specific genes associated with developmental brain disorders of three types: leading to intellectual disability (ID); affecting corticogenesis (Lissencephaly);or associated with aberrant behavior (Smith-Magenis syndrom, Autism). 

  • Srivastava, A. K., & Schwartz, C. E. (2014). Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms. Neuroscience & Biobehavioral Reviews,46, 161-174. doi:10.1016/j.neubiorev.2014.02.015

  • Liu, Y. F., Sowell, S. M., Luo, Y., Chaubey, A., Cameron, R. S., Kim, H., & Srivastava, A. K. (2015). Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment. Plos One,10(4). doi:10.1371/journal.pone.0123106

  • Vieira, G. H., Cook, M. M., Lima, R. L., Domingues, C. E., Carvalho, D. R., Paiva, I. S., . . . Srivastava, A. K. (2015). Clinical and Molecular Heterogeneity in Brazilian Patients with Sotos Syndrome. Molecular Syndromology. doi:10.1159/000370169

 

Roger Stevenson, M.D.   Ravenel Boykin Curry Chair in Genetic Therapeutics and Senior Clinical Geneticist, Greenwood Genetic Center

Dr. Stevenson received his M.D. from Bowman Gray School of Medicine from Wake Forest University in Winston Salem, North Carolina. His entire professional career has been devoted to the study of birth defects and developmental impairments. He has contributed largely to the literature cytogenetic, metabolic, molecular and environmental causes of these disabilities. 

Research Focus: 
He focuses mainly on molecular studies, X-linked intellectual disabilities, birth defects prevention programs, and anatomic studies. 

  • Couser, N. L., Masood, M. M., Aylsworth, A. S., & Stevenson, R. E. (2017). Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genetics, 1-12. doi:10.1080/13816810.2016.1247459

  • Lubs HA, Stevenson RE, Schwartz CE. Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet. 2012 Apr 6; 90(4):579-90.

  • Skinner C, Schroer RJ, Stevenson RS. Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. Molecular Cytogenetics 2012, 5:17.

  • Stevenson, R. E., Schwartz, C. E., & Rogers, R. C. (2013). Malformations among the X-linked intellectual disability syndromes. American Journal of Medical Genetics Part A,161(11), 2741-2749. doi:10.1002/ajmg.a.36179

 

Jill Turner, Ph.D.   Assistant Professor, South Carolina College of Pharmacy 

Dr. Turner received her Doctor in Philsophy, Neuroscience from Georgetown University in 2007.  

Research Focus: 
Her research aims to understand the biology underlying the low success rates of smoking quitters. She investigates the genomic alterations resulting from chronic nicotine administration and withdrawal.  In addition to learning about genomic mechanisms, she is also interested in how she could apply this knowledge to further personalize medicine. 

  • Mague SD, Port RG, McMullen ME, Carlson GC, Turner JR. Mouse model of OPRM1 (A118G) polymorphism has altered hippocampal function. Neuropharmacology. ., 2015. View in: PubMed 

  • Turner, J. R., Wilkinson, D. S., Poole, R. L., Gould, T. J., Carlson, G. C., & Blendy, J. A. (2013). Divergent Functional Effects of Sazetidine-A and Varenicline During Nicotine Withdrawal. Neuropsychopharmacology,38(10), 2035-2047. doi:10.1038/npp.2013.105 

  • Falcone, M., Lee, B., Lerman, C., & Blendy, J. A. (2015). Translational Research on Nicotine Dependence. Translational Neuropsychopharmacology Current Topics in Behavioral Neurosciences, 121-150. doi:10.1007/7854_2015_5005

  • Turner, J. R., Ecke, L. E., Briand, L. A., Haydon, P. G., & Blendy, J. A. (2012). Cocaine-related behaviors in mice with deficient gliotransmission. Psychopharmacology,226(1), 167-176. doi:10.1007/s00213-012-2897-4

 

Jeff Twiss, M.D., Ph.D.   SmartState Chair in Childhood Neurotherapeutics, Department of Biology, University of South Carolina 

Dr. Jeff Twiss received his M.D. from the Medical University of South Carolina (MUSC) in 1990 and his Ph.D. in Molecular and Cell Biology from MUSC in 1992.  He completed his Post-doctoral training in Neurobiology at Stanford University.

Research Focus:
Dr. Twiss' research focuses on neural repair mechanisms and how to utilize these mechanisms to improve recovery after injury. Long range communication is provided through the axonal processes. These processes in adults and large mammals can extend up to meters and if they are disrupted, either through injury or disease, often lead to permenant loss of function, unless neural connections can be restored. The neural processes the he studies are also impactful to neural function, synaptic plasticity, and development. The SmartStart Childhood Neurotherapeutics at the University of South Carolina focuses broadly on the molecular mechanisms of nervous system diseases with ultimate goals of finding novel strategies to treat disease and encourage neural repair. 

  • A.L. Kalinski, R. Sachdeva, C. Gomes, S.J. Lee, Z. Shah, J. Houle, and J.L. Twiss. (2015). mRNAs and protein synthetic machinery localize into regenerating spinal cord axons when they are provided a substrate that supports growth. J Neurosci 35:10357-70 (COVER IMAGE).

  • A. Kalinski, T. Hines, D.S. Smith, and J.L. Twiss. Neuronal transport and spatial signaling mechanisms in neural repair. Encylopedia of Cell Biology, Elsevier Press, Eds. RA Bradshaw and P Stahl in press

  • S.J. Lee, A.L. Kalinski, and J.L. Twiss. (2014). Awakening the stalled axon – Surprises in CSPG gradients. Submitted to Exp Neurol. 254:12-7.

 

Robin Welsh, M.D.   Assistant Professor of Clinical Pediatrics, University of South Carolina School of Medicine

Dr. Welsh received her M.D. from the Medical University of South Carolina in 1988.  As Director of the Child Development and Behavior Health Clinic at the University of South Carolina School of Medicine, she specializes in child and adolescent psychiatry and pediatrics. 

 

 

 

 

 

 

 

 

 

South Carolina Autism and Neurodevelopmental Disorders Consortium (SCAND)