SCAND Research Affiliates
Jennifer Bisson, Ph.D. | 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. | 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. |
|
Luigi Boccuto, M.D. | Clemson University
|
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 a clinical associate professor in the College of Behavioral, Social, and Health Sciences in the School of Nursing at Clemson University.
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. |
|
Christopher Cowan, Ph.D. | Medical University of South Carolina
|
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. |
|
Norma Frizell, Ph.D. | 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. |
|
Caitlin Hudac, Ph.D. | UNIVERSITY OF SOUTH CAROLINA
|
Dr. Hudac received her Ph.D. in Psychology from the University of Nebraska where she studied infant and child brain development. Her postdoctoral work at the University of Washington involved a genetics-first approach to understanding neurodevelopmental disorders. She is currently an Associate Professor in Psychology and is the steering director for USC's Carolina Autism and Neurodevelopment (CAN) Research Center.
Research Focus: Her research interests target three main themes: (1) understanding the social brain in autism and subgroups with disruptive genetic mutations; (2) implications for early developmental trajectories; and (3) how brains "sync" together when people are interacting. Relevant to SCAND aims, she uses a "deep phenotype" approach to understand brain processes and behaviors of many different genetic subgroups linked to neurodevelopmental disorders, including (but not limited to): ADNP, CHD8, CSNK2A1, DYRK1A, GRIN2B, HIVEP2, MED13L, SCN2A, SETBP1. Dr. Hudac seeks to improve inclusion in neuroscience (in part) across the state by using equipment that can be set-up in participants' homes or local community centers. Dr. Hudac's lab has been funded by grants from the National Institutes of Health, Simons Foundation, FamiliesSCN2A Foundation, and GRIN2B Foundation. |
|
JANE JOSEPH, Ph.D. | 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. |
|
title 7
|
Coming soon!
Research Focus: Coming soon! |
|
Trudy Mackay, Ph.D. | 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. | 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. |
|
FABIENNE POULAIN, Ph.D. | 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. |
|
Jane Roberts, PH.D. | 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 |
|
Steve SkinnER, M.D. | GREENWOOD GENETIC CENTER
|
Dr. Skinner is the Director of the Greenwood Genetic Center. He is a clinical geneticist involved in the evaluation and treatment of children and adults with birth defects, intellectual disabilities, and other genetic disorders. His areas of interest include Rett syndrome, Angelman syndrome, autism, and intellectual disabilities. Dr. Skinner has been actively involved in the treatment initiative of the Center and was instrumental in the development of the South Carolina Center for the Treatment of Genetic Disorders. He is a principal investigator on the NIH/Rare Diseases Clinical Research Network’s Rett Syndrome Natural History Study and is involved in numerous clinical trials for patients with this neurodevelopmental disorder.
Dr. Skinner is certified by the American Board of Medical Genetics (1990) and by the American Board of Pediatrics (1985). He is a Founding Fellow of the American College of Medical Genetics and a Fellow of the American Academy of Pediatrics. He is also a member of the American Society of Human Genetics, the South Carolina Medical Association, the South Carolina Pediatric Society, and the Greenwood County Medical Society. Education B.S., Wofford College, Spartanburg, S.C., 1975 M.D., Medical University of South Carolina, Charleston, S.C., 1979 Residency (Family Practice), Richland Memorial Hospital, Columbia, S.C., 1979-81 Residency (Pediatrics), Richland Memorial Hospital, Columbia, S.C., 1981-83 Private Practice of Pediatrics, Georgetown, S.C., 1983-87 |
|
Deanna Smith, Ph.D. | 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. |
|
Tato Sokhadze, Ph.D. | UNIVERSITY OF SOUTH CAROLINA School of Medicine
|
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. |
|
RICHARD STEET, PH.D. | GREENWOOD GENETIC CENTER
|
Dr. Steet joined GGC in August 2018 as the Director of Research and Head of the JC Self Research Institute following twelve years as a professor in the Complex Carbohydrate Research Center at the University of Georgia. His current research program, funded by the NIH and private foundations, is focused on defining disease mechanisms for two different classes of inherited diseases: lysosomal storage disorders and the congenital disorders of glycosylation. This work takes advantage of cell and animal-based models and uses a combination of chemical, molecular, and developmental approaches to unravel the complex pathogenesis of these disorders and explore new ways to treat them.
Dr. Steet’s goals for the Research Division are to integrate strengths in basic science research with clinical and translational studies, to enhance partnerships with pharmaceutical companies that can drive therapeutic development, and collaborate with the Clinical and Diagnostic divisions of GGC to enhance our understanding of the genetic basis for birth defects and disabilities. Dr. Steet is a dedicated advocate of rare disease research and serves on the scientific advisory boards for the National MPS Society and ISMRD. Education B.A. (Chemistry), Colgate University, Hamilton, NY, 1994 Ph.D. (Chemistry and Biochemistry), University of Colorado-Boulder, Boulder, CO, 2000 Postdoctoral Fellow, Washington University in Saint Louis, Department of Medicine, 2000-2005 |
|
Carrie Buchanan, M.D. | GREENWOOD GENETIC CENTER
|
Carrie Buchanan is board certified in pediatrics and developmental-behavioral pediatrics. After graduating from fellowship at Greenville Health System, she joined the Greenwood Genetic Center’s Greenville office. Her research interests include autism spectrum disorders, intellectual disability, fragile X syndrome, Rett syndrome, and Phelan-McDermid Syndrome.
Dr. Buchanan’s work includes a range of multidisciplinary approaches to the study of neurodevelopmental disabilities, specifically intellectual disability and autism spectrum disorder, and commonly associated genetic disorders, such as Rett syndrome and fragile X syndrome. Dr. Buchanan will be involved in the development of outcome measures, identification of biomarkers, and the design and implementation of clinical trials. She is also involved in the development of a Fragile X Syndrome Clinic and a Phelan-McDermid Syndrome Clinic where her focus is primarily behavioral management. Education B.S., Biology, Davidson College, Davidson, NC, 2006 M.D., Medical College of Georgia, Augusta, GA, 2010 Pediatric Residency, Greenville Health System, 2010-2013 Developmental-Behavioral Pediatric Fellowship, Greenville Health System, 2013-2016 |
|
Jill Turner, Ph.D. | 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. |
|
Jeff Twiss, M.D., Ph.D. | 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. |
|
Robin Welsh, M.D. | 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.
|
|